Harmonizome 3.0

cytochrome c oxidase subunit IV isoform 1 pseudogene 1

cytochrome c oxidase subunit IV isoform 1 pseudogene 2

cytochrome c oxidase subunit VIIc pseudogene

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 7

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 5

cytochrome c oxidase subunit Va

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer of proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Va of the human mitochondrial respiratory chain enzyme. A pseudogene COX5AP1 has been found in chromosome 14q22. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit Vb

Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]

cytochrome c, somatic pseudogene 38

cytochrome c, somatic pseudogene 39

cytochrome c, somatic pseudogene 34

cytochrome c, somatic pseudogene 35

cytochrome c, somatic pseudogene 30

cytochrome c, somatic pseudogene 32

cytochrome P450, family 2, subfamily D, polypeptide 6

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

cytochrome P450, family 2, subfamily D, polypeptide 7 (gene/pseudogene)

This gene is a member of the cytochrome P450 gene superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is a segregating pseudogene, where some individuals may have an allele that encodes a functional enzyme, while other individuals have an allele encoding a protein that is predicted to be non-functional. In this case, the functional allele is thought to be rare. This locus is part of a cluster of cytochrome P450 genes on chromosome 22. [provided by RefSeq, Jan 2017]

cytochrome c oxidase subunit VIIa polypeptide 2 like

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein similar to polypeptides 1 and 2 of subunit VIIa in the C-terminal region, and also highly similar to the mouse Sig81 protein sequence. This gene is expressed in all tissues, and upregulated in a breast cancer cell line after estrogen treatment. It is possible that this gene represents a regulatory subunit of COX and mediates the higher level of energy production in target cells by estrogen. Several transcript variants, some protein-coding and others non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

cytochrome P450, family 4, subfamily X, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes and is located within a cluster of genes belonging to this superfamily on chromosome 1. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The expression pattern of a similar rat protein suggests that this protein may be involved in neurovascular function in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae) pseudogene

SCO1 cytochrome c oxidase assembly protein

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

mitochondrially encoded cytochrome c oxidase I pseudogene

cytochrome P450, family 3, subfamily A, polypeptide 5

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein metabolizes drugs as well as the steroid hormones testosterone and progesterone. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Two pseudogenes of this gene have been identified within this cluster on chromosome 7. Expression of this gene is widely variable among populations, and a single nucleotide polymorphism that affects transcript splicing has been associated with susceptibility to hypertensions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

cytochrome c oxidase subunit VIc pseudogene 4

cytochrome P450, family 27, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

cytochrome P450, family 24, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily C, polypeptide 115, pseudogene

translational activator of mitochondrially encoded cytochrome c oxidase I

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]

cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene

cytochrome P450, family 4, subfamily F, polypeptide 36, pseudogene

cytochrome P450, family 26, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

cytochrome c oxidase subunit VIIb2

Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Predicted to act upstream of or within spermatogenesis. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIc

Cytochrome c oxidase, the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIc, which has 77% amino acid sequence identity with mouse subunit VIc. This gene is up-regulated in prostate cancer cells. A pseudogene has been found on chromosomes 16p12. [provided by RefSeq, Jul 2010]

cytochrome c, testis, pseudogene

Predicted to enable heme binding activity. Predicted to act upstream of or within hydrogen peroxide metabolic process and positive regulation of intrinsic apoptotic signaling pathway. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIa polypeptide 1

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in the electron transfer and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (liver isoform) of subunit VIa, and polypeptide 1 is found in all non-muscle tissues. Polypeptide 2 (heart/muscle isoform) of subunit VIa is encoded by a different gene, and is present only in striated muscles. These two polypeptides share 66% amino acid sequence identity. It has been reported that there may be several pseudogenes on chromosomes 1, 6, 7q21, 7q31-32 and 12. However, only one pseudogene (COX6A1P) on chromosome 1p31.1 has been documented. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIa polypeptide 2

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (heart/muscle isoform) of subunit VIa, and polypeptide 2 is present only in striated muscles. Polypeptide 1 (liver isoform) of subunit VIa is encoded by a different gene, and is found in all non-muscle tissues. These two polypeptides share 66% amino acid sequence identity. [provided by RefSeq, Jul 2008]

oxidase (cytochrome c) assembly 1-like

This gene encodes an evolutionarily conserved protein that is localized to the inner mitochondrial membrane. The encoded protein is essential for the translocation of the N-terminal tail of subunit 2 of cytochrome c oxidase, and is involved in the assembly of the cytochrome c oxidase and ATPase complexes of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2016]

cytochrome P450, family 46, subfamily A, polypeptide 4, pseudogene

cytochrome P450, family 4, subfamily F, polypeptide 22

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19 and encodes an enzyme thought to play a role in the 12(R)-lipoxygenase pathway. Mutations in this gene are the cause of ichthyosis lamellar type 3. [provided by RefSeq, Jul 2008]

COX19 cytochrome c oxidase assembly factor

COX19 encodes a cytochrome c oxidase (COX)-assembly protein. The S. cerevisiae Cox19 protein may play a role in metal transport to the mitochondrial intermembrane space and assembly of complex IV of the mitochondrial respiratory chain (Sacconi et al., 2005 [PubMed 16212937]).[supplied by OMIM, Mar 2008]

cytochrome P450, family 2, subfamily AB, polypeptide 1, pseudogene

cytochrome c, somatic pseudogene 49

cytochrome c, somatic pseudogene 48

cytochrome c, somatic pseudogene 46

cytochrome c, somatic pseudogene 41

cytochrome c, somatic pseudogene 40

cytochrome c, somatic pseudogene 43

cytochrome c, somatic pseudogene 42

cytochrome P450, family 1, subfamily A, polypeptide 1

This gene, CYP1A1, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]

cytochrome P450, family 1, subfamily A, polypeptide 2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the endoplasmic reticulum and its expression is induced by some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. Other xenobiotic substrates for this enzyme include caffeine, aflatoxin B1, and acetaminophen. The transcript from this gene contains four Alu sequences flanked by direct repeats in the 3' untranslated region. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily A, polypeptide 7

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum; its substrate has not yet been determined. This gene, which produces two transcript variants, is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily A, polypeptide 6

This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily C, polypeptide 18

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

cytochrome P450, family 27, subfamily C, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]

cytochrome P450, family 1, subfamily D, polypeptide 1, pseudogene

cytochrome P450, family 2, subfamily T, polypeptide 3, pseudogene

cytochrome P450, family 4, subfamily A, polypeptide 11 pseudogene

cytochrome P450, family 2, subfamily R, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]

cytochrome P450, family 8, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless. [provided by RefSeq, Jul 2008]

cytochrome c, somatic pseudogene 45

cytochrome c, somatic pseudogene 44

ubiquinol-cytochrome c reductase, complex III subunit X pseudogene

cytochrome c oxidase subunit Vb pseudogene 8

cytochrome c oxidase subunit Vb pseudogene 4

cytochrome c oxidase subunit Vb pseudogene 5

cytochrome c oxidase subunit Vb pseudogene 6

cytochrome c oxidase subunit Vb pseudogene 7

cytochrome c oxidase subunit Vb pseudogene 1

cytochrome c oxidase subunit Vb pseudogene 2

cytochrome c oxidase subunit Vb pseudogene 3

cytochrome P450, family 4, subfamily A, polypeptide 43, pseudogene

cytochrome P450, family 46, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIIb pseudogene

cytochrome P450 2D4-like

cytochrome b-245, beta polypeptide

Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]

cytochrome b-245, alpha polypeptide

Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase system of phagocytes. Mutations in this gene are associated with autosomal recessive chronic granulomatous disease (CGD), that is characterized by the failure of activated phagocytes to generate superoxide, which is important for the microbicidal activity of these cells. [provided by RefSeq, Jul 2008]

cytochrome P450, family 19, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and catalyzes the last steps of estrogen biosynthesis. Mutations in this gene can result in either increased or decreased aromatase activity; the associated phenotypes suggest that estrogen functions both as a sex steroid hormone and in growth or differentiation. Alternative promoter use and alternative splicing results in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]

COX17 cytochrome c oxidase copper chaperone pseudogene 1

cytochrome b5 type A (microsomal) pseudogene 5

cytochrome c, somatic pseudogene 16

cytochrome c, somatic pseudogene 17

cytochrome c, somatic pseudogene 14

cytochrome c, somatic pseudogene 12

cytochrome c, somatic pseudogene 10

cytochrome c, somatic pseudogene 11

cytochrome c, somatic pseudogene 18

cytochrome c, somatic pseudogene 19

cytochrome P450, family 4, subfamily F, polypeptide 29, pseudogene

cytochrome P450, family 2, subfamily B, polypeptide 6

This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

COX20 cytochrome c oxidase assembly factor pseudogene 2

COX20 cytochrome c oxidase assembly factor pseudogene 1

cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene

cytochrome P450, family 2, subfamily C, polypeptide 59, pseudogene

cytochrome P450, family 2, subfamily A

The cytochrome P450 superfamily of enzymes are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The CYP2 gene cluster on chromosome 19q13.2 includes several genes and pseudogenes from the CYP2A, CYP2B, and CYP2F subfamilies. [provided by RefSeq, Jul 2008]

cytochrome P450, family 4, subfamily Z, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily C, polypeptide 19

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, omeprazole, diazepam and some barbiturates. Polymorphism within this gene is associated with variable ability to metabolize mephenytoin, known as the poor metabolizer and extensive metabolizer phenotypes. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily J, polypeptide 2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

cytochrome P450, family 20, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein lacks one amino acid of the conserved heme binding site. It also lacks the conserved I-helix motif AGX(D,E)T, suggesting that its substrate may carry its own oxygen. [provided by RefSeq, Jul 2008]

SCO1 cytochrome c oxidase assembly protein pseudogene

cytochrome P450, family 2, subfamily G, polypeptide 2 pseudogene

ubiquinol-cytochrome c reductase, complex III subunit X

UCRC is a subunit of mitochondrial complex III (ubiquinol-cytochrome c reductase; EC 1.10.2.2), which forms the middle segment of the respiratory chain of the inner mitochondrial membrane (Schagger et al., 1995 [PubMed 8592474]).[supplied by OMIM, Mar 2008]

ubiquinol-cytochrome c reductase, complex III subunit XI

This gene encodes the smallest known component of the ubiquinol-cytochrome c reductase complex, which forms part of the mitochondrial respiratory chain. The encoded protein may function as a binding factor for the iron-sulfur protein in this complex. [provided by RefSeq, Oct 2009]

cytochrome P450, family 2, subfamily W, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. [provided by RefSeq, Jul 2008]

cytochrome b5 type A (microsomal) pseudogene 2

cytochrome c, somatic pseudogene 33

cytochrome P450, family 7, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa

This gene encodes a ubiquinone-binding protein of low molecular mass. This protein is a small core-associated protein and a subunit of ubiquinol-cytochrome c reductase complex III, which is part of the mitochondrial respiratory chain. [provided by RefSeq, Jul 2008]

ubiquinol-cytochrome c reductase hinge protein

Enables ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase binding protein

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ubiquinone and participates in the transfer of electrons when ubiquinone is bound. This protein plays an important role in hypoxia-induced angiogenesis through mitochondrial reactive oxygen species-mediated signaling. Mutations in this gene are associated with mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. Related pseudogenes have been identified on chromosomes 1, 5 and X. [provided by RefSeq, Dec 2011]

cytochrome P450, family 3, subfamily A, polypeptide 43

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

ubiquinol-cytochrome c reductase core protein II pseudogene 1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 1

Predicted to enable oxidoreductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 2

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 pseudogene 3

cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene

Predicted to enable several functions, including heme binding activity; iron ion binding activity; and monooxygenase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

COX14 cytochrome c oxidase assembly factor

This gene encodes a small single-pass transmembrane protein that localizes to mitochondria. This protein may play a role in coordinating the early steps of cytochrome c oxidase (COX; also known as complex IV) subunit assembly and, in particular, the synthesis and assembly of the COX I subunit of the holoenzyme. Mutations in this gene have been associated with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

cytochrome b5 type A (microsomal) pseudogene 4

cytochrome b5 type A (microsomal) pseudogene 3

cytochrome c, somatic pseudogene 29

cytochrome c, somatic pseudogene 28

cytochrome c, somatic pseudogene 27

cytochrome c, somatic pseudogene 26

cytochrome c, somatic pseudogene 24

cytochrome c, somatic pseudogene 23

cytochrome c, somatic pseudogene 22

cytochrome c, somatic pseudogene 20

ubiquinol-cytochrome c reductase binding protein pseudogene

cytochrome P450, family 4, subfamily F, polypeptide 34, pseudogene

cytochrome c oxidase subunit VIIb pseudogene 2

cytochrome c oxidase subunit VIIb pseudogene 1

cytochrome P450, family 4, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

cytochrome P450, family 17, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 2

Predicted to be involved in mitochondrial respirasome assembly and regulation of oxidative phosphorylation. Predicted to be located in mitochondrial inner membrane. Predicted to be part of respiratory chain complex. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

cytochrome c oxidase subunit VIIb pseudogene

cytochrome P450, family 4, subfamily A, polypeptide 22

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

cytochrome b reductase 1

This gene is a member of the cytochrome b(561) family that encodes an iron-regulated protein. It highly expressed in the duodenal brush border membrane. It has ferric reductase activity and is believed to play a physiological role in dietary iron absorption. [provided by RefSeq, Jul 2008]

cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 1

cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 3

cytochrome P450, family 51, subfamily A, polypeptide 1 pseudogene 2

ubiquinol-cytochrome c reductase binding protein pseudogene 2

ubiquinol-cytochrome c reductase binding protein pseudogene 3

ubiquinol-cytochrome c reductase binding protein pseudogene 1

cytochrome P450, family 7, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum membrane protein catalyzes the first reaction in the cholesterol catabolic pathway in the liver, which converts cholesterol to bile acids. This reaction is the rate limiting step and the major site of regulation of bile acid synthesis, which is the primary mechanism for the removal of cholesterol from the body. Polymorphisms in the promoter of this gene are associated with defects in bile acid synthesis. [provided by RefSeq, Feb 2010]

cytochrome P450, family 2, subfamily T, polypeptide 1, pseudogene

cytochrome P450, family 27, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The protein encoded by this gene localizes to the inner mitochondrial membrane where it hydroxylates 25-hydroxyvitamin D3 at the 1alpha position. This reaction synthesizes 1alpha,25-dihydroxyvitamin D3, the active form of vitamin D3, which binds to the vitamin D receptor and regulates calcium metabolism. Thus this enzyme regulates the level of biologically active vitamin D and plays an important role in calcium homeostasis. Mutations in this gene can result in vitamin D-dependent rickets type I. [provided by RefSeq, Jul 2008]

cytochrome P450, family 3, subfamily A, polypeptide 51, pseudogene

This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A7 and CYP3A5 family members. It contains duplicates of exons 1, 2 and 13 that are found in the functional genes. Readthrough transcription exists between the CYP3A7 gene and this pseudogene, where the readthrough transcript includes CYP3A7 exons 1-13 and exons 2 and 13 of this pseudogene, as represented in GeneID:100861540. This pseudogene is not known to be independently transcribed. [provided by RefSeq, Feb 2012]

cytochrome P450, family 26, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIc pseudogene 5

cytochrome c oxidase subunit VIc pseudogene 6

cytochrome P450, family 4, subfamily F, polypeptide 23, pseudogene

cytochrome P450, family 4, subfamily F, polypeptide 9, pseudogene

COX18 cytochrome c oxidase assembly factor

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes heme A:farnesyltransferase, which is not a structural subunit but required for the expression of functional COX and functions in the maturation of the heme A prosthetic group of COX. This protein is predicted to contain 7-9 transmembrane domains localized in the mitochondrial inner membrane. A gene mutation, which results in the substitution of a lysine for an asparagine (N204K), is identified to be responsible for cytochrome c oxidase deficiency. In addition, this gene is disrupted in patients with CMT1A (Charcot-Marie-Tooth type 1A) duplication and with HNPP (hereditary neuropathy with liability to pressure palsies) deletion. [provided by RefSeq, Jul 2008]

COX11 cytochrome c oxidase copper chaperone

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be a heme A biosynthetic enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]

cytochrome c oxidase assembly homolog 15 (yeast)

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)

Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. Implicated in mitochondrial complex IV deficiency nuclear type 22. [provided by Alliance of Genome Resources, Mar 2025]

COX17 cytochrome c oxidase copper chaperone

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily F, polypeptide 2, pseudogene

cytochrome c oxidase subunit VIIc pseudogene 1

cytochrome P450, family 4, subfamily F, polypeptide 10, pseudogene

cytochrome P450, family 1, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene localizes to the endoplasmic reticulum and metabolizes procarcinogens such as polycyclic aromatic hydrocarbons and 17beta-estradiol. Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid. [provided by RefSeq, Jul 2008]

cytochrome P450, family 4, subfamily F, polypeptide 12

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein likely localizes to the endoplasmic reticulum. When expressed in yeast the enzyme is capable of oxdizing arachidonic acid. It can also catalyze the epoxidation of 22:6n-3 and 22:5n-3 polyunsaturated long-chain fatty acids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

cytochrome P450, family 4, subfamily F, polypeptide 11

This gene, CYP4F11, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

mitochondrially encoded cytochrome c oxidase II pseudogene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 2

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 1

cytochrome c oxidase assembly factor 5

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

cytochrome c oxidase assembly factor 4 homolog (S. cerevisiae)

Predicted to be involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase assembly factor 7 (putative)

Involved in respiratory chain complex IV assembly. Located in mitochondrion and nucleoplasm. Is active in mitochondrial intermembrane space. Implicated in spinocerebellar ataxia with axonal neuropathy type 3. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase assembly factor 6

This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase assembly factor 3

This gene encodes a member of the cytochrome c oxidase assembly factor family. Studies of a related gene in fly suggest that the encoded protein is localized to mitochondria and is essential for cytochrome c oxidase function. [provided by RefSeq, Nov 2012]

cytochrome c, somatic pseudogene 25

ubiquinol-cytochrome c reductase hinge protein-like

This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the UQCRH gene, so this gene is being called protein-coding for now. [provided by RefSeq, Jul 2008]

ubiquinol-cytochrome c reductase hinge protein pseudogene 3

cytochrome P450, family 2, subfamily U, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit I

Contributes to cytochrome-c oxidase activity. Predicted to be involved in aerobic respiration; positive regulation of vasoconstriction; and respiratory electron transport chain. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit II

Contributes to cytochrome-c oxidase activity. Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen and positive regulation of vasoconstriction. Located in mitochondrial inner membrane. Part of mitochondrial membrane and respiratory chain complex IV. Biomarker of Huntington's disease and stomach cancer. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase III

Predicted to contribute to cytochrome-c oxidase activity. Involved in respiratory chain complex IV assembly. Located in mitochondrion. Part of mitochondrial membrane and respiratory chain complex IV. Implicated in MELAS syndrome. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIIa polypeptide 2 like pseudogene

BC1 (ubiquinol-cytochrome c reductase) synthesis-like

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondrial targeting sequence but experimental studies confirm that it is imported into mitochondria. Mutations in this gene are associated with mitochondrial complex III deficiency and the GRACILE syndrome. Several alternatively spliced transcripts encoding two different isoforms have been described. [provided by RefSeq, Jan 2016]

cytochrome P450, family 4, subfamily A, polypeptide 11

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates medium-chain fatty acids such as laurate and myristate. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]

cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 7b (pseudogene)

cytochrome c oxidase subunit VIIIB, pseudogene

Cytochrome c oxidase is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. In addition a number of cytochrome c oxidase subunit pseudogenes have been found. This gene represents a subunit which has been inactivated by mutation and is nonfunctional in humans. [provided by RefSeq, Jul 2008]

cytochrome b561 family, member D1

Predicted to enable heme binding activity and oxidoreductase activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b561 family, member D2

Enables heme binding activity and transmembrane monodehydroascorbate reductase activity. Involved in ascorbate homeostasis. Predicted to be located in vesicle. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

COX20 cytochrome c oxidase assembly factor

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

cytochrome P450, family 2, subfamily D, polypeptide 6 pseudogene

SCO2 cytochrome c oxidase assembly protein

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1

Predicted to enable oxidoreductase activity. Involved in mitochondrial respiratory chain complex III assembly and respiratory electron transport chain. Located in mitochondrion. Part of respiratory chain complex III. Implicated in mitochondrial complex III deficiency. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome P450, family 2, subfamily E, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily A, polypeptide 13

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2

This locus represents a CYP3A pseudogene that is present within a cluster of CYP3A (cytochrome P450, family 3, subfamily A) genes on chromosome 7. This pseudogene is located between the CYP3A4 and CYP3A7 family members. It contains duplicates of exons 1 and 2 that are found in the functional genes. This pseudogene does not appear to be transcribed. [provided by RefSeq, Feb 2012]

cytochrome b5 reductase 4

NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]

cytochrome b5 reductase 3

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cytoplasmic side of the endoplasmic reticulum and functions in desaturation and elongation of fatty acids, in cholesterol biosynthesis, and in drug metabolism. The erythrocyte form is located in a soluble fraction of circulating erythrocytes and is involved in methemoglobin reduction. The membrane-bound form has both membrane-binding and catalytic domains, while the soluble form has only the catalytic domain. Alternate splicing results in multiple transcript variants. Mutations in this gene cause methemoglobinemias. [provided by RefSeq, Jan 2010]

cytochrome b5 reductase 2

The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

cytochrome b5 reductase 1

Predicted to enable FAD binding activity. Predicted to be involved in bicarbonate transport. Located in cytosol and mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b5 reductase-like

Predicted to enable cytochrome-b5 reductase activity, acting on NAD(P)H. Predicted to be involved in bicarbonate transport. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome P450, family 11, subfamily B, polypeptide 2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [provided by RefSeq, Jul 2008]

cytochrome P450, family 11, subfamily B, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIc pseudogene 1

cytochrome c oxidase subunit VIc pseudogene 2

cytochrome c oxidase subunit VIc pseudogene 3

cytochrome c oxidase subunit IV isoform 2 (lung)

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit IV isoform 1

Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

ubiquinol-cytochrome c reductase core protein II

The protein encoded by this gene is located in the mitochondrion, where it is part of the ubiquinol-cytochrome c reductase complex (also known as complex III). This complex constitutes a part of the mitochondrial respiratory chain. Defects in this gene are a cause of mitochondrial complex III deficiency nuclear type 5. [provided by RefSeq, Jul 2015]

ubiquinol-cytochrome c reductase core protein I

Enables ubiquitin protein ligase binding activity. Predicted to be involved in oxidative phosphorylation. Predicted to act upstream of or within mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in Alzheimer's disease. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome P450, family 4, subfamily F, polypeptide 59, pseudogene

cytochrome P450, family 4, subfamily F, polypeptide 25, pseudogene

cytochrome P450, family 26, subfamily C, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]

COX11 cytochrome c oxidase copper chaperone pseudogene 1

cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIIa polypeptide 2 (liver)

Cytochrome c oxidase, the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of three catalytic subunits encoded by mitochondrial genes, and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, while the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 2 (liver isoform) of subunit VIIa, with this polypeptide being present in both muscle and non-muscle tissues. In addition to polypeptide 2, subunit VIIa includes polypeptide 1 (muscle isoform), which is present only in muscle tissues, and a related protein, which is present in all tissues. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 4 and 14. [provided by RefSeq, Oct 2009]

cytochrome c oxidase subunit VIIb

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]

cytochrome c oxidase subunit VIIc

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIc, which shares 87% and 85% amino acid sequence identity with mouse and bovine COX VIIc, respectively, and is found in all tissues. A pseudogene COX7CP1 has been found on chromosome 13. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes subunit VIb. Mutations in this gene are associated with severe infantile encephalomyopathy. Three pseudogenes COX6BP-1, COX6BP-2 and COX6BP-3 have been found on chromosomes 7, 17 and 22q13.1-13.2, respectively. [provided by RefSeq, Jan 2010]

cytochrome c oxidase subunit VIb polypeptide 2 (testis)

Predicted to be involved in oxidative phosphorylation. Located in mitochondrial crista. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c, somatic pseudogene 8

cytochrome c, somatic pseudogene 4

cytochrome c, somatic pseudogene 5

cytochrome c, somatic pseudogene 6

cytochrome c, somatic pseudogene 7

cytochrome c, somatic pseudogene 1

cytochrome c, somatic pseudogene 2

cytochrome c, somatic pseudogene 3

cytochrome P450, family 2, subfamily F, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to dehydrogenate 3-methylindole, an endogenous toxin derived from the fermentation of tryptophan, as well as xenobiotic substrates such as naphthalene and ethoxycoumarin. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIIa polypeptide 2 (liver) pseudogene 1

cytochrome P450, family 4, subfamily F, polypeptide 35, pseudogene

mitochondrially encoded cytochrome c oxidase III pseudogene

cytochrome b561 family, member A3

Predicted to enable transmembrane ascorbate ferrireductase activity. Predicted to be involved in intracellular iron ion homeostasis. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase complex assembly factor 1

This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

ubiquinol-cytochrome c reductase complex assembly factor 3

Complex III is a mitochondrial inner membrane protein complex that transfers electrons from ubiquinol to cytochrome c. This gene encodes a protein that functions in complex III assembly. Mutations in this gene result in Mitochondrial complex III deficiency, nuclear type 9. [provided by RefSeq, Dec 2014]

ubiquinol-cytochrome c reductase complex assembly factor 2

This gene encodes a nucleoid protein localized to the mitochondria inner membrane. The encoded protein affects regulation of insulin secretion, mitochondrial ATP production, and myogenesis through modulation of mitochondrial respiratory chain activity. [provided by RefSeq, Oct 2012]

cytochrome P450, family 4, subfamily F, polypeptide 62, pseudogene

cytochrome P450, family 3, subfamily A, polypeptide 7

This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]

cytochrome P450, family 3, subfamily A, polypeptide 4

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by glucocorticoids and some pharmacological agents. This enzyme is involved in the metabolism of approximately half the drugs in use today, including acetaminophen, codeine, cyclosporin A, diazepam, erythromycin, and chloroquine. The enzyme also metabolizes some steroids and carcinogens. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Previously another CYP3A gene, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2020]

cytochrome b561

Predicted to enable transmembrane monodehydroascorbate reductase activity. Predicted to be involved in ascorbate homeostasis. Predicted to be located in chromaffin granule membrane. Predicted to be active in lysosomal membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b

Predicted to enable metal ion binding activity. Predicted to contribute to ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in ovarian carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c, somatic pseudogene 52

cytochrome c, somatic pseudogene 53

cytochrome c, somatic pseudogene 51

cytochrome c, somatic pseudogene 55

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 4

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 3

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 2

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 1

cytochrome P450, family 11, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

cytochrome P450, family 4, subfamily V, polypeptide 2

This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6

cytochrome b5 type A (microsomal)

The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in this gene are a cause of type IV hereditary methemoglobinemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

cytochrome b5 type B (outer mitochondrial membrane)

Enables heme binding activity. Contributes to nitrite reductase (NO-forming) activity. Involved in nitric oxide biosynthetic process. Located in membrane. Part of nitric-oxide synthase complex. [provided by Alliance of Genome Resources, Mar 2025]

P450 (cytochrome) oxidoreductase

This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]

cytochrome P450, family 2, subfamily S, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. In rodents, the homologous protein has been shown to metabolize certain carcinogens; however, the specific function of the human protein has not been determined. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily D, polypeptide 6 pseudogene

cytochrome c oxidase subunit VIIIC

Predicted to be involved in mitochondrial electron transport, cytochrome c to oxygen. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIIIA (ubiquitous)

The protein encoded by this gene is the terminal enzyme of the respiratory chain, coupling the transfer of electrons from cytochrome c to molecular oxygen, with the concomitant production of a proton electrochemical gradient across the inner mitochondrial membrane. In addition to 3 mitochondrially encoded subunits, which perform the catalytic function, the eukaryotic enzyme contains nuclear-encoded smaller subunits, ranging in number from 4 in some organisms to 10 in mammals. It has been proposed that nuclear-encoded subunits may be involved in the modulation of the catalytic function. This gene encodes one of the nuclear-encoded subunits. [provided by RefSeq, Jul 2008]

cytochrome c, somatic

This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.[provided by RefSeq, Jul 2010]

cytochrome P450, family 2, subfamily B, polypeptide 7, pseudogene

cytochrome c oxidase subunit Va pseudogene 2

cytochrome c oxidase subunit Va pseudogene 1

cytochrome P450, family 2, subfamily A, polypeptide 7 pseudogene 1

cytochrome b5 domain containing 1

Predicted to enable metal ion binding activity. Predicted to be involved in cilium movement and regulation of cilium beat frequency. Predicted to be located in cell projection; cytoplasm; and cytoskeleton. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b5 domain containing 2

Predicted to enable heme binding activity. Predicted to be involved in nervous system development. Predicted to act upstream of or within positive regulation of neuron differentiation. Predicted to be located in extracellular region. Predicted to be active in endomembrane system and membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c-1

This gene encodes a subunit of the cytochrome bc1 complex, which plays an important role in the mitochondrial respiratory chain by transferring electrons from the Rieske iron-sulfur protein to cytochrome c. Mutations in this gene may cause mitochondrial complex III deficiency, nuclear type 6. [provided by RefSeq, Dec 2013]

cytochrome P450, family 39, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is involved in the conversion of cholesterol to bile acids. Its substrates include the oxysterols 25-hydroxycholesterol, 27-hydroxycholesterol and 24-hydroxycholesterol. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

ubiquinol-cytochrome c reductase hinge protein pseudogene 4

ubiquinol-cytochrome c reductase hinge protein pseudogene 1

ubiquinol-cytochrome c reductase hinge protein pseudogene 2

cytochrome P450, family 4, subfamily F, polypeptide 8

This gene, CYP4F8, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and functions as a 19-hydroxylase of prostaglandins in seminal vesicles. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F3, is approximately 18 kb away. [provided by RefSeq, Jul 2008]

cytochrome P450, family 4, subfamily F, polypeptide 2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008]

cytochrome P450, family 4, subfamily F, polypeptide 3

This gene, CYP4F3, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F8, is approximately 18 kb away. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2019]

cytochrome P450, family 51, subfamily A, polypeptide 1

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

cytochrome P450, family 2, subfamily C, polypeptide 9

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by rifampin. The enzyme is known to metabolize many xenobiotics, including phenytoin, tolbutamide, ibuprofen and S-warfarin. Studies identifying individuals who are poor metabolizers of phenytoin and tolbutamide suggest that this gene is polymorphic. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily C, polypeptide 8

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3

cytochrome P450, family 2, subfamily D, polypeptide 8, pseudogene

cytochrome P450, family 3, subfamily A

The CYP3A locus includes all the known members of the 3A subfamily of the cytochrome P450 superfamily of genes. These genes encode monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The CYP3A cluster consists of four genes, CYP3A43, CYP3A4, CYP3A7 and CYP3A5. The region also contains two pseudogenes, CYP3A5P1 and CYP3A5P2, as well as several extra exons which may or may not be included in transcripts produced from this region. Previously another CYP3A member, CYP3A3, was thought to exist; however, it is now thought that this sequence represents a transcript variant of CYP3A4. [provided by RefSeq, Jul 2008]

cytochrome P450, family 21, subfamily A, polypeptide 2

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

cytochrome P450, family 2, subfamily G, polypeptide 1 pseudogene

Predicted to enable several functions, including heme binding activity; iron ion binding activity; and monooxygenase activity. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome b-245 chaperone 1

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in autosomal recessive chronic granulomatous disease 5. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome P450 2D6

cytochrome P450 family 2 subfamily C member 23, pseudogene

cytochrome b

Predicted to enable metal ion binding activity. Predicted to contribute to ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrion. Part of mitochondrial inner membrane. Implicated in ovarian carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase complex assembly factor 4

Predicted to be involved in mitochondrial respiratory chain complex III assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

ubiquinol-cytochrome c reductase complex assembly factor 6

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex III assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase assembly factor 8

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

ubiquinol-cytochrome c reductase complex assembly factor 5

Enables mitochondrial ribosome binding activity. Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrion. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome P450 family 4 subfamily F member 32, pseudogene

cytochrome P450 2D6-like

cytochrome c oxidase associated subunit FA4

cytochrome c oxidase hypoxia associated subunit FA4L2

cytochrome c oxidase associated subunit FA4L3

cytochrome c oxidase subunit NDUFA4-like

immunoglobulin heavy variable (II)-60-1 (pseudogene)

immunoglobulin heavy variable 1-8

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-3

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-2

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 6-25

immunoglobulin heavy variable 4-4

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

ferritin, heavy polypeptide 1 pseudogene 4

immunoglobulin heavy variable 5-78 (pseudogene)

immunoglobulin heavy variable (III)-26-1 (pseudogene)

immunoglobulin heavy variable 1-69-2

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-45

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

neurofilament, heavy polypeptide pseudogene

immunoglobulin heavy variable 1-38-4 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

Ig heavy chain V-III region VH26-like

myosin, heavy chain 7B, cardiac muscle, beta

The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]

immunoglobulin heavy constant epsilon P2 (pseudogene)

immunoglobulin heavy constant epsilon P1 (pseudogene)

immunoglobulin heavy diversity 3/OR15-3B (non-functional)

immunoglobulin heavy diversity 3/OR15-3A (non-functional)

immunoglobulin heavy variable 3/OR16-7 (pseudogene)

immunoglobulin heavy variable 3-69-1 (pseudogene)

immunoglobulin heavy variable (II)-22-1 (pseudogene)

immunoglobulin heavy variable 3-37 (pseudogene)

immunoglobulin heavy variable 3-36 (pseudogene)

immunoglobulin heavy variable 3-35 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-33

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-32 (pseudogene)

immunoglobulin heavy variable 3-30

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 6-19

immunoglobulin heavy diversity 6-13

immunoglobulin heavy joining 6

immunoglobulin heavy joining 5

immunoglobulin heavy joining 4

immunoglobulin heavy joining 3

immunoglobulin heavy joining 2

immunoglobulin heavy joining 1

Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-12 (pseudogene)

immunoglobulin heavy variable 1-14 (pseudogene)

immunoglobulin heavy variable 3/OR16-13 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 7-34-1 (pseudogene)

immunoglobulin heavy variable 3-30-2 (pseudogene)

immunoglobulin heavy variable 3-30-3

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-30-5

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

Ig heavy chain V-III region VH26-like

immunoglobulin heavy variable 4-38-2

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 2-2

immunoglobulin heavy diversity 2-8

immunoglobulin heavy variable (II)-49-1 (pseudogene)

immunoglobulin heavy diversity 3-9

immunoglobulin heavy diversity 3-3

IGHD3-3 belongs to a cluster of approximately 25 functional diversity (D) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the D gene cluster, see (MIM 146910).[supplied by OMIM, Apr 2008]

immunoglobulin heavy variable 1/OR15-2 (pseudogene)

immunoglobulin heavy variable 1/OR15-3 (pseudogene)

immunoglobulin heavy variable 1/OR15-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1/OR15-6 (pseudogene)

immunoglobulin heavy variable 1/OR15-4 (pseudogene)

immunoglobulin heavy variable 1/OR15-9 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy joining 1P (pseudogene)

immunoglobulin heavy constant gamma 4 (G4m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 1 (G1m marker)

Enables Fc-gamma receptor I complex binding activity. Involved in antibody-dependent cellular cytotoxicity and complement-dependent cytotoxicity. Located in extracellular space. Part of IgG immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 2 (G2m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in extracellular space. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma 3 (G3m marker)

Predicted to enable antigen binding activity and immunoglobulin receptor binding activity. Predicted to be involved in antibacterial humoral response and complement activation, classical pathway. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant gamma P (non-functional)

immunoglobulin heavy variable (II)-30-1 (pseudogene)

Ig heavy chain V-III region VH26-like

Ig heavy chain V-III region VH26-like

ferritin, heavy polypeptide 1 pseudogene 20

ferritin, heavy polypeptide 1 pseudogene 21

ferritin, heavy polypeptide 1 pseudogene 22

ferritin, heavy polypeptide 1 pseudogene 25

immunoglobulin heavy variable 2-70

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

clathrin, heavy chain-like 1

This gene is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]

immunoglobulin heavy variable 3-48

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-49

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-47 (pseudogene)

immunoglobulin heavy variable 3-42 (pseudogene)

immunoglobulin heavy variable 3-43

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-41 (pseudogene)

ferritin, heavy polypeptide 1

This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable (II)-26-2 (pseudogene)

immunoglobulin heavy variable 3-43D

dynein, axonemal, heavy chain 14

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. Two major classes of dyneins, axonemal and cytoplasmic, have been identified. DNAH14 is an axonemal dynein heavy chain (DHC) (Vaughan et al., 1996 [PubMed 8812413]).[supplied by OMIM, Mar 2008]

dynein, axonemal, heavy chain 17

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]

dynein, axonemal, heavy chain 10

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH10 is an inner arm dynein heavy chain (Maiti et al., 2000 [PubMed 11175280]).[supplied by OMIM, Mar 2008]

dynein, axonemal, heavy chain 12

Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and dynein intermediate chain binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in axoneme and microtubule. Predicted to be part of axonemal dynein complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (III)-44 (pseudogene)

immunoglobulin heavy variable 3-11 (gene/pseudogene)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-31-1 (pseudogene)

immunoglobulin heavy variable 7-40 (pseudogene)

immunglobulin heavy chain variable region

ferritin, heavy polypeptide 1 pseudogene

Ig heavy chain V region 5A-like

ferritin, heavy polypeptide 1 pseudogene 24

ferritin, heavy polypeptide 1 pseudogene 26

ferritin, heavy polypeptide 1 pseudogene 27

immunoglobulin heavy diversity 3-22

immunoglobulin heavy variable (II)-44-2 (pseudogene)

immunoglobulin heavy variable (III)-2-1 (pseudogene)

immunoglobulin heavy variable (III)-16-1 (pseudogene)

immunoglobulin heavy variable 2-70D

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-67 (pseudogene)

immunoglobulin heavy variable 1-68 (pseudogene)

immunoglobulin heavy variable 1-69

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-39

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-31

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy joining 3P (pseudogene)

immunoglobulin heavy diversity 1-14 (non-functional)

immunoglobulin heavy variable 2-26

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4-17

immunoglobulin heavy diversity 4-11 (non-functional)

immunoglobulin heavy diversity 2/OR15-2B (non-functional)

immunoglobulin heavy diversity 2/OR15-2A (non-functional)

myosin heavy chain gene cluster antisense RNA

Predicted to enable primary miRNA binding activity. Predicted to be involved in response to muscle activity and skeletal muscle fiber development. Predicted to act upstream of or within with a positive effect on gene expression. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4/OR15-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

Ig heavy chain V region 914-like

immunoglobulin heavy variable 3-19 (pseudogene)

immunoglobulin heavy variable 3-15

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-16 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-13

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-43-1 (pseudogene)

immunoglobulin heavy variable 4-55 (pseudogene)

clathrin heavy chain linker domain containing 1

Ig heavy chain V-III region J606-like

immunoglobulin heavy variable (IV)-44-1 (pseudogene)

immunoglobulin heavy variable 4-34

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

dynein, axonemal, heavy chain 1

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]

dynein, axonemal, heavy chain 6

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Mutations in this gene may cause primary ciliary dyskinesia (PCD) as well as heterotaxy. [provided by RefSeq, Jun 2016]

dynein, axonemal, heavy chain 7

DNAH7 is a component of the inner dynein arm of ciliary axonemes (Zhang et al., 2002 [PubMed 11877439]).[supplied by OMIM, Mar 2008]

dynein, axonemal, heavy chain 5

This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]

dynein, axonemal, heavy chain 8

The protein encoded by this gene is a heavy chain of an axonemal dynein involved in sperm and respiratory cilia motility. Axonemal dyneins generate force through hydrolysis of ATP and binding to microtubules. [provided by RefSeq, Jan 2012]

dynein, axonemal, heavy chain 9

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable (III)-47-1 (pseudogene)

immunoglobulin heavy diversity 4/OR15-4B (non-functional)

immunoglobulin heavy diversity 2-21

immunoglobulin heavy variable (II)-40-1 (pseudogene)

immunoglobulin heavy constant delta

Predicted to enable antigen binding activity. Involved in positive regulation of interleukin-1 production. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

ferritin, heavy polypeptide 1 pseudogene 23

immunoglobulin heavy diversity 1-20

immunoglobulin heavy diversity 1-26

neurofilament, heavy polypeptide

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]

immunoglobulin heavy variable 6-1

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-65-1 (pseudogene)

immunoglobulin heavy constant epsilon

Enables immunoglobulin receptor binding activity. Involved in several processes, including B cell mediated immunity; Fc receptor-mediated immune complex endocytosis; and leukocyte degranulation. Located in extracellular space and plasma membrane. Part of IgE B cell receptor complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 6-6

immunoglobulin heavy variable (II)-53-1 (pseudogene)

immunoglobulin heavy variable 4-61

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-62-1 (pseudogene)

immunoglobulin heavy variable (II)-20-1 (pseudogene)

immunoglobulin heavy constant alpha 2 (A2m marker)

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant alpha 1

Contributes to immunoglobulin receptor binding activity. Involved in glomerular filtration and positive regulation of respiratory burst. Located in extracellular space. Part of monomeric IgA immunoglobulin complex and secretory dimeric IgA immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (II)-28-1 (pseudogene)

dynein, axonemal, heavy chain 2

Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]

immunoglobulin heavy variable 3/OR16-12 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-11 (pseudogene)

immunoglobulin heavy variable 3/OR16-10 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-16 (pseudogene)

immunoglobulin heavy variable 3/OR16-15 (pseudogene)

dynein, axonemal, heavy chain 11

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

dynein heavy chain domain 1

Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Involved in sperm flagellum assembly. Located in sperm flagellum. Implicated in spermatogenic failure 65. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-25 (pseudogene)

immunoglobulin heavy variable 3-20

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-21

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-22 (pseudogene)

immunoglobulin heavy variable 3-23

IGHV3-23 belongs to a cluster of approximately 40 functional variable (V) genes in the immunoglobulin (Ig) heavy chain locus on chromosome 14. For background information on the Ig heavy chain and the V gene cluster, see (MIM 147070).[supplied by OMIM, Apr 2008]

immunoglobulin heavy variable 3-29 (pseudogene)

immunoglobulin heavy variable 7-27 (pseudogene)

inter-alpha-trypsin inhibitor heavy chain 1

This gene encodes a member of the inter-alpha-trypsin inhibitor family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the heavy chain of the inter-alpha-trypsin inhibitor complex, which is secreted by hepatocytes into the blood. The heavy chain also interacts with hyaluronan, and this interaction may play a role in ovulation and fertilization, and has been implicated in multiple inflammatory diseases. This gene is present in a gene cluster on chromosome 3. [provided by RefSeq, Nov 2015]

inter-alpha-trypsin inhibitor heavy chain 3

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]

inter-alpha-trypsin inhibitor heavy chain 2

The inter-alpha-trypsin inhibitors (ITI) are a family of structurally related plasma serine protease inhibitors involved in extracellular matrix stabilization and in prevention of tumor metastasis. The ITI family contains multiple proteins made up of a light chain (see MIM 176870) and a variable number of heavy chains (Salier et al., 1987 [PubMed 2446322]; Himmelfarb et al., 2004 [PubMed 14744536]).[supplied by OMIM, Nov 2009]

inter-alpha-trypsin inhibitor heavy chain family, member 5

This gene encodes a heavy chain component of one of the inter-alpha-trypsin inhibitor (ITI) family members. ITI proteins are involved in extracellular matrix stabilization and in the prevention of tumor metastasis. They are also structurally related plasma serine protease inhibitors and are composed of a light chain and varying numbers of heavy chains. This family member is thought to function as a tumor suppressor in breast and thyroid cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

inter-alpha-trypsin inhibitor heavy chain family, member 4

The protein encoded by this gene is secreted into the blood, where it is cleaved by plasma kallikrein into two smaller forms. Expression of this gene has been detected only in liver, and it seems to be upregulated during surgical trauma. This gene is part of a cluster of similar genes on chromosome 3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

inter-alpha-trypsin inhibitor heavy chain family, member 6

The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]

dynein, axonemal, heavy chain 3

This gene belongs to the dynein family, whose members encode large proteins that are constituents of the microtubule-associated motor protein complex. This complex is composed of dynein heavy, intermediate and light chains, which can be axonemal or cytoplasmic. This protein is an axonemal dynein heavy chain. It is involved in producing force for ciliary beating by using energy from ATP hydrolysis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2016]

immunoglobulin heavy variable 3/OR15-7 (pseudogene)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy chain variable region

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

dynein, axonemal, heavy chain 10 opposite strand

immunoglobulin heavy variable (II)-15-1 (pseudogene)

myosin heavy chain IB-like

immunoglobulin heavy variable (III)-25-1 (pseudogene)

immunoglobulin heavy diversity 4/OR15-4A (non-functional)

immunoglobulin heavy variable (III)-67-4 (pseudogene)

immunoglobulin heavy variable (III)-67-2 (pseudogene)

immunoglobulin heavy variable (III)-67-3 (pseudogene)

dynein, cytoplasmic 2, heavy chain 1

This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

kinesin heavy chain member 2A

The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

ferritin, heavy polypeptide 1 pseudogene 13

immunoglobulin heavy variable 3/OR16-9 (non-functional)

Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-8 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy constant mu

Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]

immunoglobulin heavy variable 1/OR15-5 (non-functional)

immunoglobulin heavy variable 2-5

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-59

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

Ig heavy chain V-I region V35-like

solute carrier family 3 (amino acid transporter heavy chain), member 2

This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]

solute carrier family 3 (amino acid transporter heavy chain), member 1

This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable 3-33-2 (pseudogene)

immunoglobulin heavy variable (III)-22-2 (pseudogene)

immunoglobulin heavy variable 3-79 (pseudogene)

immunoglobulin heavy variable 3-73

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-72

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-71 (pseudogene)

immunoglobulin heavy variable 3-76 (pseudogene)

immunoglobulin heavy variable 3-75 (pseudogene)

immunoglobulin heavy variable 3-74

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3/OR16-14 (pseudogene)

immunoglobulin heavy variable 3/OR16-6 (pseudogene)

immunoglobulin heavy variable 3-7

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in blood microparticle and extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-6 (pseudogene)

immunoglobulin heavy variable 3-9

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (III)-51-1 (pseudogene)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-46

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity orphans on chromosome 15

Ig heavy chain V-I region V35-like

dynein heavy chain -like pseudogene

immunoglobulin heavy variable 7-4-1

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 1-7

immunoglobulin heavy diversity 1-1

Predicted to be involved in adaptive immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

kinesin heavy chain member 2A pseudogene

ferritin, heavy polypeptide 1 pseudogene

Ig heavy chain V-III region VH26-like

dynein, cytoplasmic 1, heavy chain 1

Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]

immunoglobulin heavy diversity 3-16

immunoglobulin heavy diversity 3-10

immunoglobulin heavy variable 1/OR16-1 (pseudogene)

immunoglobulin heavy variable 1/OR16-3 (pseudogene)

immunoglobulin heavy variable 1/OR16-2 (pseudogene)

immunoglobulin heavy variable 1/OR16-4 (pseudogene)

immunoglobulin heavy variable 1-58

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy joining 2P (pseudogene)

immunoglobulin heavy variable (III)-76-1 (pseudogene)

immunoglobulin heavy variable 2/OR16-5 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4-23 (non-functional)

immunoglobulin heavy variable 4-80 (pseudogene)

immunoglobulin heavy variable 7-81 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-24

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 4-4

immunoglobulin heavy diversity 5/OR15-5B (non-functional)

immunoglobulin heavy diversity 5/OR15-5A (non-functional)

myosin heavy chain-associated RNA transcript

This gene encodes a spliced long non-coding RNA that may act as a cardioprotective agent in the heart. Based on a study of a similar gene in mouse, the encoded transcript may regulate chromatin remodeling by acting as a decoy to the BRG1 chromatin repressor complex thus preventing it from binding to its genomic targets. Blocking the actions of BRG1 could be crucial in protecting the heart from pathological hypertrophy. [provided by RefSeq, Dec 2014]

immunoglobulin heavy diversity 1/OR15-1B (non-functional)

immunoglobulin heavy diversity 1/OR15-1A (non-functional)

immunoglobulin heavy variable (II)-78-1 (pseudogene)

immunoglobulin heavy variable 1/OR21-1 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 5-18

immunoglobulin heavy diversity 5-12

immunoglobulin heavy variable (III)-5-2 (pseudogene)

immunoglobulin heavy variable (III)-5-1 (pseudogene)

immunoglobulin heavy variable 5-51

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 5-5

immunoglobulin heavy variable 3-64D

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-38-3 (non-functional)

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

clathrin, heavy chain (Hc)

Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]

immunoglobulin heavy variable 4-30-4

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-30-2

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 4-30-1

immunoglobulin heavy variable (III)-38-1 (pseudogene)

immunoglobulin heavy variable (III)-82 (pseudogene)

Ig heavy chain V region 5A-like

immunoglobulin heavy variable (II)-33-1 (pseudogene)

immunoglobulin heavy variable 5-10-1

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable (III)-11-1 (pseudogene)

immunoglobulin heavy variable (III)-13-1 (pseudogene)

ferritin, heavy polypeptide 1 pseudogene

ferritin, heavy polypeptide 1 pseudogene 3

ferritin, heavy polypeptide 1 pseudogene 2

ferritin, heavy polypeptide 1 pseudogene 5

ferritin, heavy polypeptide 1 pseudogene 7

ferritin, heavy polypeptide 1 pseudogene 8

immunoglobulin heavy variable (II)-46-1 (pseudogene)

ferritin, heavy polypeptide 1 pseudogene 15

ferritin, heavy polypeptide 1 pseudogene 14

ferritin, heavy polypeptide 1 pseudogene 16

ferritin, heavy polypeptide 1 pseudogene 11

ferritin, heavy polypeptide 1 pseudogene 10

ferritin, heavy polypeptide 1 pseudogene 12

ferritin, heavy polypeptide 1 pseudogene 19

Predicted to enable ferric iron binding activity and ferrous iron binding activity. Predicted to be involved in intracellular iron ion homeostasis and iron ion transport. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

ferritin, heavy polypeptide 1 pseudogene 18

myosin, heavy chain 10, non-muscle

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-10 (MYO10). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene have been associated with May-Hegglin anomaly and developmental defects in brain and heart. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

myosin, heavy chain 11, smooth muscle

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4. [provided by RefSeq, May 2022]

myosin, heavy chain 13, skeletal muscle

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in muscle contraction. Predicted to act upstream of or within cellular response to starvation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Mar 2025]

myosin, heavy chain 14, non-muscle

This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

myosin, heavy chain 15

Predicted to enable actin filament binding activity and microfilament motor activity. Predicted to be involved in extraocular skeletal muscle development. Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]

myosin, heavy chain 16 pseudogene

The protein coding status of the MYH16 gene is uncertain. In nonhuman primates, this gene encodes a sarcomeric myosin heavy chain expressed in masticatory muscles, but has been hypothesized to be inactivated in humans. Stedman et al. (2004) [PubMed 15042088] suggest that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man. However, there is peptide support suggesting that a shorter protein containing only a myosin tail domain is expressed in human. [provided by RefSeq, Jul 2024]

neurofilament, heavy polypeptide pseudogene 1

immunoglobulin heavy variable (II)-1-1 (pseudogene)

immunoglobulin heavy diversity 7-27

immunoglobulin heavy variable 3-50 (pseudogene)

immunoglobulin heavy variable 3-53

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-52 (pseudogene)

immunoglobulin heavy variable 3-54 (pseudogene)

immunoglobulin heavy variable 3-57 (pseudogene)

immunoglobulin heavy variable (II)-67-1 (pseudogene)

immunoglobulin heavy diversity 5-24 (non-functional)

immunoglobulin heavy variable (II)-74-1 (pseudogene)

immunoglobulin heavy variable 7-56 (pseudogene)

immunoglobulin heavy variable 4-28

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy diversity 2-15

immunoglobulin heavy variable 1-17 (pseudogene)

immunoglobulin heavy variable 1-18

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 1-69D

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

ferritin, heavy polypeptide-like 17 pseudogene

ferritin, heavy polypeptide-like 17

This gene encodes a ferritin heavy chain-like protein. This gene is primarily expressed in embryonic germ cells. The encoded protein may lack ferroxidase activity. Multiple pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Oct 2016]

immunoglobulin heavy variable 2-10 (pseudogene)

immunoglobulin heavy variable 3-60 (pseudogene)

immunoglobulin heavy variable 3-62 (pseudogene)

immunoglobulin heavy variable 3-63 (pseudogene)

immunoglobulin heavy variable 3-64

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

immunoglobulin heavy variable 3-65 (pseudogene)

immunoglobulin heavy variable 3-66

Predicted to enable antigen binding activity. Predicted to be involved in immunoglobulin mediated immune response. Predicted to be located in extracellular region and plasma membrane. Predicted to be part of immunoglobulin complex. [provided by Alliance of Genome Resources, Mar 2025]

myosin heavy chain IB-like

myosin, heavy chain 2, skeletal muscle, adult

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

myosin, heavy chain 3, skeletal muscle, embryonic

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

myosin, heavy chain 1, skeletal muscle, adult

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]

myosin, heavy chain 6, cardiac muscle, alpha

Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

myosin, heavy chain 7, cardiac muscle, beta

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy. [provided by RefSeq, May 2022]

myosin, heavy chain 4, skeletal muscle

Enables double-stranded RNA binding activity. Involved in muscle contraction. Located in myofibril. [provided by Alliance of Genome Resources, Mar 2025]

myosin, heavy chain 8, skeletal muscle, perinatal

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

myosin, heavy chain 9, non-muscle

This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. [provided by RefSeq, Dec 2011]

immunoglobulin heavy locus

Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]

immunoglobulin heavy variable (II)-51-2 (pseudogene)

myosin VA (heavy chain 12, myoxin)

This gene is one of three myosin V heavy-chain genes, belonging to the myosin gene superfamily. Myosin V is a class of actin-based motor proteins involved in cytoplasmic vesicle transport and anchorage, spindle-pole alignment and mRNA translocation. The protein encoded by this gene is abundant in melanocytes and nerve cells. Mutations in this gene cause Griscelli syndrome type-1 (GS1) and neuroectodermal melanolysosomal disease, or Elejalde disease. [provided by RefSeq, Sep 2023]

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b245, heavy chain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the heavy chain immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease gamma heavy chain disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores

genes co-occuring with the disease heavy chain disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

From GO Molecular Function Annotations 2015

genes performing the myosin ii heavy chain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the myosin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the dynein heavy chain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the clathrin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain, P-loop containing D4 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytoplasmic dynein 2 heavy chain 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain, linker protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain, propeller repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain-related protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain, domain-2 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain, domain-1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain 1, axonemal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain 6, axonemal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain, propeller, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain 7, axonemal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain, coiled coil stalk protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain, linker/propeller domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inter-alpha-trypsin inhibitor heavy chain, C-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain, linker, core motif protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Dynein heavy chain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Clathrin, heavy chain/VPS, 7-fold repeat protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal immunoglobulin heavy chain v(d)j recombination phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Heavy Chain Deposition Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From GO Molecular Function Annotations 2023

genes performing the clathrin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the myosin II heavy chain binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From GO Molecular Function Annotations 2023

genes performing the myosin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2023 dataset.

From MGI Mouse Phenotype Associations 2023

gene mutations causing the abnormal immunoglobulin heavy chain V(D)J recombination phenotype in transgenic mice from the MGI Mouse Phenotype Associations 2023 dataset.

From GO Molecular Function Annotations 2025

genes performing the clathrin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the myosin II heavy chain binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From GO Molecular Function Annotations 2025

genes performing the myosin heavy chain binding molecular function from the curated GO Molecular Function Annotations 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin heavy-and-light chain in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Heavy chain disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Gamma heavy chain disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From DISEASES Text-mining Gene-Disease Association Evidence Scores 2025

genes co-occuring with the disease Immunoglobulin heavy chain amyloidosis in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025

proteins co-occuring with the Heavy chain immunoglobulin complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.

From ClinVar Gene-Phenotype Associations 2025

genes associated with the Neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain phenotype from the curated ClinVar Gene-Phenotype Associations 2025 dataset.

From DGIdb Drug Targets 2026

interacting proteins for the IGE HEAVY CHAIN drug from theDGIdb Drug Targets 2026 dataset.

From GO Molecular Function Annotations 2015

genes performing the electron transporter, transferring electrons from coqh2-cytochrome c reductase complex and cytochrome c oxidase complex activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the long-chain-(s)-2-hydroxy-long-chain-acid oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From CORUM Protein Complexes

proteins in the (ER)-localized multiprotein complex, in absence of Ig heavy chains protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the (ER)-localized multiprotein complex, Ig heavy chains associated protein complex from the CORUM Protein Complexes dataset.

From CTD Gene-Chemical Interactions

genes/proteins interacting with the chemical Metals, Heavy from the curated CTD Gene-Chemical Interactions dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Heavy Metal Toxicity from the curated CTD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term heavy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Molecular Function Annotations 2015

genes performing the mitochondrial heavy strand promoter anti-sense binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the mitochondrial heavy strand promoter sense binding molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Heavy-metal-associated, conserved site protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Heavy metal-associated domain, HMA protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Heavy metal-associated domain, copper ion-binding protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Heavy Drinking in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Heavy Metal Poisoning, Nervous System in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Disease Associations

genes associated with the disease Toxic Effect Of Heavy Metal in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Intermenstrual Heavy Bleeding in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From DisGeNET Gene-Phenotype Associations

genes associated with the phenotype Heavy Proteinuria in GWAS and other genetic association datasets from the DisGeNET Gene-Phenotype Associations dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Alcohol consumption (heavy vs. light/non-drinkers) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Smoking status (heavy vs light) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Smoking status (heavy vs never) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lung function in heavy smokers (low FEV1 vs high FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Lung function in heavy smokers (high FEV1 vs average FEV1) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From GWAS Catalog SNP-Phenotype Associations 2025

genes associated with the Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test) phenotype in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 3 phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From ClinVar Gene-Phenotype Associations

genes associated with the Cytochrome-c oxidase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytochrome complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytochrome b6f complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the cytochrome complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

From CORUM Protein Complexes

proteins in the Cytochrome bc1-complex (EC 1.10.2.2), mitochondrial protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Cytochrome c oxidase (EC 1.9.3.1), mitochondrial protein complex from the CORUM Protein Complexes dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease NADH cytochrome B5 reductase deficiency from the curated CTD Gene-Disease Associations dataset.

From CTD Gene-Disease Associations

genes/proteins associated with the disease Cytochrome-c Oxidase Deficiency from the curated CTD Gene-Disease Associations dataset.

From DISEASES Curated Gene-Disease Association Evidence Scores

genes involed in the disease cytochrome-c oxidase deficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

From GAD Gene-Disease Associations

genes associated with the disease cytochrome-c oxidase deficiency; leigh disease in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease hypertrophic cardiomyopathy and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease leigh syndrome and cytochrome c oxidase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease deficient cytochrome c oxidase assembly in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease cytochrome p450 oxidoreductase in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease genetic polymorphism of cytochrome p450 2a6 and the body status of iron stores in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GAD Gene-Disease Associations

genes associated with the disease high inducibility of cytochrome p450 1a1 gene transcription in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term cytochrome in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From GO Biological Process Annotations 2015

genes participating in the negative regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the mitochondrial electron transport, ubiquinol to cytochrome c biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the positive regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the cytochrome complex assembly biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the regulation of release of cytochrome c from mitochondria biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Biological Process Annotations 2015

genes participating in the mitochondrial electron transport, cytochrome c to oxygen biological process from the curated GO Biological Process Annotations 2015 dataset.

From GO Cellular Component Annotations 2015

proteins localized to the cytochrome complex cellular component from the curated GO Cellular Component Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on the ch-oh group of donors, cytochrome as acceptor molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the iron-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the cytochrome-b5 reductase activity, acting on nad(p)h molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the cytochrome-c oxidase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the oxidoreductase activity, acting on diphenols and related substances as donors, cytochrome as acceptor molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the ubiquinol-cytochrome-c reductase activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From GO Molecular Function Annotations 2015

genes performing the d-lactate dehydrogenase (cytochrome) activity molecular function from the curated GO Molecular Function Annotations 2015 dataset.

From HPO Gene-Disease Associations

genes associated with the decreased activity of cytochrome c oxidase in muscle tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HPO Gene-Disease Associations

genes associated with the deficiency or absence of cytochrome b(-245) phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

From HuGE Navigator Gene-Phenotype Associations

genes associated with the Cytochrome-c Oxidase Deficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome C oxidase subunit II, transmembrane domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase copper chaperone protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome b/b6, N-terminal protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase subunit 6C protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Flavoprotein pyridine nucleotide cytochrome reductase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c/c1 haem-lyase protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c-like domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Cytochrome c oxidase assembly protein CtaG/Cox11, domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.