Harmonizome 3.0

renalase, FAD-dependent amine oxidase

Enables several functions, including NADH binding activity; epinephrine binding activity; and monoamine oxidase activity. Involved in negative regulation of blood pressure and negative regulation of heart rate. Located in extracellular region. Implicated in essential hypertension and hypertension. Biomarker of end stage renal disease. [provided by Alliance of Genome Resources, Mar 2025]

FAD-dependent oxidoreductase domain containing 2

Enables flavin adenine dinucleotide binding activity. Involved in ERAD pathway. Located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Mar 2025]

FAD-dependent oxidoreductase domain containing 1

This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]

hydroxyacid oxidase (glycolate oxidase) 1

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site. [provided by RefSeq, Jul 2008]

proline dehydrogenase (oxidase) 1 pseudogene

cytochrome c oxidase subunit IV isoform 1 pseudogene 1

cytochrome c oxidase subunit IV isoform 1 pseudogene 2

urate oxidase, pseudogene

Urate oxidase is an enzyme that catalyzes the oxidation of uric acid to allantoin. This gene has been inactivated by mutation and is nonfunctional in humans and some other primates. [provided by RefSeq, Jul 2008]

amine oxidase, copper containing 2 (retina-specific)

Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes and ammonia in the presence of copper and quinone cofactor. This gene shows high sequence similarity to copper amine oxidases from various species ranging from bacteria to mammals. The protein contains several conserved motifs including the active site of amine oxidases and the histidine residues that likely bind copper. It may be a critical modulator of signal transmission in retina, possibly by degrading the biogenic amines dopamine, histamine, and putrescine. This gene may be a candidate gene for hereditary ocular diseases. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

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

D-amino acid oxidase activator

This gene encodes a protein that may function as an activator of D-amino acid oxidase, which degrades the gliotransmitter D-serine, a potent activator of N-methyl-D-aspartate (NMDA) type glutamate receptors. Studies also suggest that one encoded isoform may play a role in mitochondrial function and dendritic arborization. Polymorphisms in this gene have been implicated in susceptibility to schizophrenia and bipolar affective disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Mar 2011]

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 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 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

monoamine oxidase B

The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine. [provided by RefSeq, Jul 2008]

monoamine oxidase A

This gene is one of two neighboring gene family members that encode mitochondrial enzymes which catalyze the oxidative deamination of amines, such as dopamine, norepinephrine, and serotonin. Mutation of this gene results in Brunner syndrome. This gene has also been associated with a variety of other psychiatric disorders, including antisocial behavior. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Jul 2012]

cytochrome c oxidase subunit VIc pseudogene 4

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 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]

pyridoxamine 5'-phosphate oxidase

The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

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]

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]

dual oxidase 1

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes proteins encoded by this gene and the similar DUOX2 gene. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. This protein generates hydrogen peroxide and thereby plays a role in the activity of thyroid peroxidase, lactoperoxidase, and in lactoperoxidase-mediated antimicrobial defense at mucosal surfaces. Two alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2012]

dual oxidase 2

The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain and a gp91phox domain. [provided by RefSeq, Jul 2008]

NADPH oxidase 1

This gene encodes a member of the NADPH oxidase family of enzymes responsible for the catalytic one-electron transfer of oxygen to generate superoxide or hydrogen peroxide. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

NADPH oxidase 3

This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]

NADPH oxidase, EF-hand calcium binding domain 5

Enables proton channel activity and superoxide-generating NAD(P)H oxidase activity. Involved in several processes, including endothelial cell proliferation; proton transmembrane transport; and superoxide anion generation. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

NADPH oxidase 4

This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009]

quiescin Q6 sulfhydryl oxidase 2

QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]

prenylcysteine oxidase 1 like

Predicted to enable prenylcysteine oxidase activity. Predicted to be involved in neutrophil-mediated killing of bacterium and prenylated protein catabolic process. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

acyl-CoA oxidase-like

Predicted to enable acyl-CoA oxidase activity; fatty acid binding activity; and flavin adenine dinucleotide binding activity. Predicted to be involved in fatty acid beta-oxidation using acyl-CoA oxidase. Predicted to be located in peroxisomal matrix. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

acyl-CoA oxidase 2, branched chain

The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]

acyl-CoA oxidase 3, pristanoyl

Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes. Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements. However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]

acyl-CoA oxidase 1, palmitoyl

The protein encoded by this gene is the first enzyme of the fatty acid beta-oxidation pathway, which catalyzes the desaturation of acyl-CoAs to 2-trans-enoyl-CoAs. It donates electrons directly to molecular oxygen, thereby producing hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain fatty acids. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

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 c oxidase subunit VIIb pseudogene

sterol-C4-methyl oxidase pseudogene

COX17 cytochrome c oxidase copper chaperone pseudogene 1

quiescin Q6 sulfhydryl oxidase 1

This gene encodes a protein that contains domains of thioredoxin and ERV1, members of two long-standing gene families. The gene expression is induced as fibroblasts begin to exit the proliferative cycle and enter quiescence, suggesting that this gene plays an important role in growth regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

COX20 cytochrome c oxidase assembly factor pseudogene 2

COX20 cytochrome c oxidase assembly factor pseudogene 1

polyamine oxidase (exo-N4-amino)

Enables polyamine oxidase activity. Involved in polyamine metabolic process and positive regulation of spermidine biosynthetic process. Predicted to be located in cytosol and peroxisomal matrix. Predicted to be active in cytoplasm. Implicated in lung non-small cell carcinoma. [provided by Alliance of Genome Resources, Mar 2025]

amine oxidase, copper containing 3

This gene encodes a member of the semicarbazide-sensitive amine oxidase family. Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The encoded protein is localized to the cell surface, has adhesive properties as well as monoamine oxidase activity, and may be involved in leukocyte trafficking. Alterations in levels of the encoded protein may be associated with many diseases, including diabetes mellitus. A pseudogene of this gene has been described and is located approximately 9-kb downstream on the same chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]

spermine oxidase

Polyamines are ubiquitous polycationic alkylamines which include spermine, spermidine, putrescine, and agmatine. These molecules participate in a broad range of cellular functions which include cell cycle modulation, scavenging reactive oxygen species, and the control of gene expression. These molecules also play important roles in neurotransmission through their regulation of cell-surface receptor activity, involvement in intracellular signalling pathways, and their putative roles as neurotransmitters. This gene encodes an FAD-containing enzyme that catalyzes the oxidation of spermine to spermadine and secondarily produces hydrogen peroxide. Multiple transcript variants encoding different isoenzymes have been identified for this gene, some of which have failed to demonstrate significant oxidase activity on natural polyamine substrates. The characterized isoenzymes have distinctive biochemical characteristics and substrate specificities, suggesting the existence of additional levels of complexity in polyamine catabolism. [provided by RefSeq, Jul 2012]

SCO1 cytochrome c oxidase assembly protein pseudogene

dual oxidase maturation factor 1

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]

dual oxidase maturation factor 2

This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid dyshormonogenesis 5.[provided by RefSeq, Feb 2010]

amine oxidase, copper containing 4, pseudogene

coproporphyrinogen oxidase

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

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]

amine oxidase, copper containing 1

This gene encodes a metal-binding membrane glycoprotein that oxidatively deaminates putrescine, histamine, and related compounds. The encoded protein is inhibited by amiloride, a diuretic that acts by closing epithelial sodium ion channels. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

lysyl oxidase-like 1

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

lysyl oxidase-like 2

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

lysyl oxidase-like 3

This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]

lysyl oxidase-like 4

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIIb pseudogene 2

cytochrome c oxidase subunit VIIb pseudogene 1

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

pipecolic acid oxidase

Enables L-pipecolate oxidase activity and sarcosine oxidase activity. Involved in L-lysine catabolic process to acetyl-CoA via L-pipecolate. Located in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

cytochrome c oxidase subunit VIc pseudogene 5

cytochrome c oxidase subunit VIc pseudogene 6

aldehyde oxidase 1

Aldehyde oxidase produces hydrogen peroxide and, under certain conditions, can catalyze the formation of superoxide. Aldehyde oxidase is a candidate gene for amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

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]

proline dehydrogenase (oxidase) 1

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

cytochrome c oxidase subunit VIIc pseudogene 1

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]

gulonolactone (L-) oxidase, pseudogene

This gene is nonfunctional in humans and other primates. In most mammalian species the corresponding gene encodes L-gulono-gamma-lactone oxidase which catalyzes the last step of ascorbic acid biosynthesis. The human gene is a remnant that lacks five of twelve exons found in functional rodent genes. The loss of enzyme activity results in hypoascorbemia or the inability to synthesize vitamin C. [provided by RefSeq, Nov 2010]

NADPH oxidase 4 pseudogene

aldehyde oxidase 2 pseudogene

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

D-aspartate oxidase

The protein encoded by this gene is a peroxisomal flavoprotein that catalyzes the oxidative deamination of D-aspartate and N-methyl D-aspartate. Flavin adenine dinucleotide or 6-hydroxyflavin adenine dinucleotide can serve as the cofactor in this reaction. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2019]

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]

prenylcysteine oxidase 1 pseudogene

NADPH oxidase organizer 1

This gene encodes an NADPH oxidase (NOX) organizer, which positively regulates NOX1 and NOX3. The protein contains a PX domain and two SH3 domains. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2012]

proline dehydrogenase (oxidase) 2

The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]

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]

membrane primary amine oxidase-like

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]

sulfite oxidase pseudogene

prenylcysteine oxidase 1

Prenylcysteine is released during the degradation of prenylated proteins. PCYOX1 catalyzes the degradation of prenylcysteine to yield free cysteines and a hydrophobic isoprenoid product (Tschantz et al., 1999 [PubMed 10585463]).[supplied by OMIM, Mar 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]

lysyl oxidase

This gene encodes a member of the lysyl oxidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate a regulatory propeptide and the mature enzyme. The copper-dependent amine oxidase activity of this enzyme functions in the crosslinking of collagens and elastin, while the propeptide may play a role in tumor suppression. In addition, defects in this gene have been linked with predisposition to thoracic aortic aneurysms and dissections. [provided by RefSeq, Jul 2016]

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]

D-amino-acid oxidase

This gene encodes the peroxisomal enzyme D-amino acid oxidase. The enzyme is a flavoprotein which uses flavin adenine dinucleotide (FAD) as its prosthetic group. Its substrates include a wide variety of D-amino acids, but it is inactive on the naturally occurring L-amino acids. Its biological function is not known; it may act as a detoxifying agent which removes D-amino acids that accumulate during aging. In mice, it degrades D-serine, a co-agonist of the NMDA receptor. This gene may play a role in the pathophysiology of schizophrenia. [provided by RefSeq, Jul 2008]

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

mitochondrially encoded cytochrome c oxidase III pseudogene

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 c oxidase subunit VIb polypeptide 1 (ubiquitous) pseudogene 6

protoporphyrinogen oxidase

This gene encodes the penultimate enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

NADPH oxidase activator 1

This gene encodes a protein which activates NADPH oxidases, enzymes which catalyze a reaction generating reactive oxygen species. The encoded protein contains four N-terminal tetratricopeptide domains and a C-terminal Src homology 3 domain. Interaction between the encoded protein and proteins in the oxidase regulatory complex occur via the tetratricopeptide domains. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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 oxidase subunit Va pseudogene 2

cytochrome c oxidase subunit Va pseudogene 1

sulfite oxidase

Sulfite oxidase is a homodimeric protein localized to the intermembrane space of mitochondria. Each subunit contains a heme domain and a molybdopterin-binding domain. The enzyme catalyzes the oxidation of sulfite to sulfate, the final reaction in the oxidative degradation of the sulfur amino acids cysteine and methionine. Sulfite oxidase deficiency results in neurological abnormalities which are often fatal at an early age. Alternative splicing results in multiple transcript variants encoding identical proteins. [provided by RefSeq, Jul 2008]

cytochrome c oxidase subunit VIa polypeptide 1 pseudogene 3

hydroxyacid oxidase 2 (long chain)

This gene is one of three related genes that have 2-hydroxyacid oxidase activity. The encoded protein localizes to the peroxisome has the highest activity toward the substrate 2-hydroxypalmitate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

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]

aldehyde oxidase 3, pseudogene

Predicted to enable aldehyde oxidase activity; electron transfer activity; and molybdenum ion binding activity. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

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

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 5

testis-specific transcript, Y-linked 25, pseudogene

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 1

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 3

zinc finger protein 736 pseudogene 3, Y-linked

brain expressed, X-linked 5

Predicted to enable signaling receptor binding activity. Predicted to be involved in signal transduction. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

brain expressed, X-linked 4

This gene is a member of the brain expressed X-linked gene family. The proteins encoded by some of the other members of this family act as transcription elongation factors which allow RNA polymerase II to escape pausing during elongation. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]

brain expressed X-linked 2

This gene belongs to the brain expressed X-linked gene family. The encoded protein interacts with the transcription factor LIM domain only 2 in a DNA-binding complex that recognizes the E-box element and promotes transcription. This gene has been found to be a tumor suppressor that is silenced in human glioma. In breast cancer cells, this gene product modulates apoptosis in response to estrogen and tamoxifen, and enhances the anti-proliferative effect of tamoxifen. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]

brain expressed, X-linked 1

Enables RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in positive regulation of DNA-binding transcription factor activity and positive regulation of transcription by RNA polymerase II. Part of transcription regulator complex. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 8

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 2

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 1

The protein encoded by this gene is found only in testicular tissue and may be involved in spermatogenesis. Many functional paralogs and pseudogenes of this gene are present in a cluster in humans, but only a single, nonfunctional orthologous gene is found in mouse. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

heat shock transcription factor family, X linked 2

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

episodic muscle weakness, X-linked

RNA binding motif protein, Y-linked, family 2, member J pseudogene

ubiquitously transcribed tetratricopeptide repeat containing, Y-linked

This gene encodes a protein containing tetratricopeptide repeats which are thought to be involved in protein-protein interactions. The encoded protein is also a minor histocompatibility antigen which may induce graft rejection of male stem cell grafts. A large number of alternatively spliced transcripts have been observed for this gene, but the full length nature of some of these variants has not been determined. [provided by RefSeq, Apr 2012]

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 4

OFD1 pseudogene 8, Y-linked

Graves disease, susceptibility to, X-linked

RNA binding motif protein, Y-linked, family 1, member H, pseudogene

ubiquitin specific peptidase 9, X-linked

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 9, Y-linked

This gene is a member of the peptidase C19 family. It encodes a protein that is similar to ubiquitin-specific proteases, which cleave the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. [provided by RefSeq, Mar 2009]

hereditary prostate cancer, X-linked

ubiquitin specific peptidase 9, Y-linked pseudogene 34

ubiquitin specific peptidase 9, Y-linked pseudogene 30

Abidi X-linked mental retardation syndrome

mental retardation, X-linked 18

mental retardation, X-linked 11

mental retardation, X-linked 12

mental retardation, X-linked 15

mental retardation, X-linked 14

mental retardation, X-linked 17

testis specific protein, Y-linked 18, pseudogene

neuroligin 4, Y-linked

This gene encodes a type I membrane protein that belongs to the family of neuroligins, which are cell adhesion molecules present at the postsynaptic side of the synapse, and may be essential for the formation of functional synapses. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Mar 2011]

neuroligin 4, X-linked

This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

testis specific protein, Y-linked 23, pseudogene

OFD1 pseudogene 18, Y-linked

retinitis pigmentosa 34 (X-linked recessive)

chromodomain protein, Y-linked 10 pseudogene

RNA binding motif protein, Y-linked, family 2, member G pseudogene

tripartite motif containing 60 pseudogene 7, Y-linked

testis-specific transcript, Y-linked 13B

Mental retardation, X-linked 92

Mental retardation, X-linked 95

testis specific protein, Y-linked 4

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 3

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ribosomal protein S4, Y-linked 2

The protein encoded by this gene is a ribosomal protein that is highly similar to RPS4Y1. This gene is located in the male-specific region of the Y chromosome. [provided by RefSeq, Aug 2012]

ribosomal protein S4, Y-linked 1

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, X-linked (RPS4X). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

ring finger protein 19B pseudogene, X-linked

ring finger protein 19B pseudogene, Y-linked

testis-specific transcript, Y-linked 28, pseudogene

Sertoli cell-only syndrome, Y-linked

sperm protein associated with the nucleus, X-linked, family member A1

Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A2, which appears to be a duplication of the A1 locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 10, Y-linked

heat shock transcription factor family, X linked 1

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 17, pseudogene

chromodomain protein, Y-linked 18 pseudogene

asparagine-linked glycosylation 1-like 7, pseudogene

family with sequence similarity 199, Y-linked, pseudogene

RNA binding motif protein, Y-linked, family 2, member O pseudogene

zinc finger protein 736 pseudogene 7, Y-linked

chromodomain protein, Y-linked 5 pseudogene

basic charge, Y-linked, 2B

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more centromeric copy within the palindrome. [provided by RefSeq, Jul 2008]

basic charge, Y-linked, 2C

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the more telomeric copy within the palindrome. [provided by RefSeq, Jul 2008]

zinc finger protein 736 pseudogene 4, Y-linked

zinc finger protein 736 pseudogene 12, Y-linked

RNA binding motif protein, Y-linked, family 1, member J

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 4, Y-linked

O-linked N-acetylglucosamine (GlcNAc) transferase

This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

X-linked Kx blood group

This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural characteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008]

X-linked suppressor of LU antigens

An X-linked recessive inhibitor (XS) of the Lutheran blood group system (MIM 111200) has been reported. For a discussion of Lutheran blood group phenotypes, see MIM 247420.[supplied by OMIM, Jun 2009]

chromodomain protein, Y-linked, 1

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

thymosin beta 4, X-linked

This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also involved in cell proliferation, migration, and differentiation. This gene escapes X inactivation and has a homolog on chromosome Y. [provided by RefSeq, Jul 2008]

thymosin beta 4, Y-linked

This gene lies within the male specific region of chromosome Y. Its homolog on chromosome X escapes X inactivation and encodes an actin sequestering protein. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 2, member W pseudogene

protein phosphatase 1, regulatory subunit 12B pseudogene, Y-linked 1

protein phosphatase 1, regulatory subunit 12B Y-linked pseudogene 2

ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 5, Y-linked

OFD1 pseudogene 5, Y-linked

Myopathy, congenital, with fiber-type disproportion, X-linked

t-complex 11 family, X-linked 1

Predicted to be involved in protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

t-complex 11 family, X-linked 2

Predicted to be involved in protein kinase A signaling and regulation of sperm capacitation. Predicted to be active in acrosomal vesicle and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025]

mental retardation, X-linked 42

mental retardation, X-linked 40

mental retardation, X-linked 49

PTPN13-like, Y-linked pseudogene 2

PTPN13-like, Y-linked pseudogene 3

PTPN13-like, Y-linked pseudogene 1

PTPN13-like, Y-linked pseudogene 4

testis specific protein, Y-linked 20, pseudogene

testis-specific transcript, Y-linked 3B (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

ubiquitin specific peptidase 9, Y-linked pseudogene 3

ubiquitin specific peptidase 9, Y-linked pseudogene 5

ubiquitin specific peptidase 9, Y-linked pseudogene 4

ubiquitin specific peptidase 9, Y-linked pseudogene 1

ubiquitin specific peptidase 9, Y-linked pseudogene 2

testis-specific transcript, Y-linked 17A (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 17C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 1, member G, pseudogene

RNA binding motif protein, Y-linked, family 2, member D pseudogene

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 2

nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1

Predicted to enable pyrophosphatase activity. Predicted to be involved in diphosphoinositol polyphosphate metabolic process and nucleotide catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 1

chondroitin sulfate proteoglycan 4 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. This gene is identical to the transcribed locus CSPG4P1Y, GeneID 114758, but is represented as non-transcribed because there is no representative transcript available in a public sequence database. [provided by RefSeq, Feb 2011]

Charcot-Marie-Tooth neuropathy, X-linked 3 (dominant)

Charcot-Marie-Tooth neuropathy, X-linked 2 (recessive)

nudix (nucleoside diphosphate linked moiety X)-type motif 16

Enables several functions, including RNA binding activity; metal ion binding activity; and pyrophosphatase activity. Involved in RNA metabolic process and positive regulation of cell cycle process. Located in cytoplasm; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

N-acetylated alpha-linked acidic dipeptidase-like 2

Predicted to act upstream of or within response to bacterium. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

N-acetylated alpha-linked acidic dipeptidase-like 1

Enables aminopeptidase activity; metal ion binding activity; and protein homodimerization activity. Involved in peptide catabolic process. Predicted to be located in apical plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 12, pseudogene

tripartite motif containing 60 pseudogene 2, Y-linked

chromodomain protein, Y-linked 17 pseudogene

basic charge, Y-linked, 2D, pseudogene

deafness, X-linked 5

deafness, X-linked 8

RNA binding motif protein, X-linked-like 1

This gene represents a retrogene of RNA binding motif protein, X-linked (RBMX), which is located on chromosome X. While all introns in the coding sequence have been processed out compared to the RBMX locus, the ORF is intact and there is specific evidence for transcription at this location. The preservation of the ORF by purifying selection in all Old World monkeys carrying it suggests that this locus is likely to be functional, possibly during male meiosis when X chromosomal genes are silenced or during haploid stages of spermatogenesis. This gene shares 5' exon structure with the cysteine conjugate-beta lyase 2 locus on chromosome 1, but the coding sequences are non-overlapping. Alternative splicing results in two transcript variants. [provided by RefSeq, Jun 2009]

RNA binding motif protein, X-linked-like 3

Predicted to enable mRNA binding activity and snRNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. [provided by Alliance of Genome Resources, Mar 2025]

RNA binding motif protein, X-linked-like 2

This gene belongs to the HNRPG subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind RNAs. This gene is intronless and is thought to be derived from a processed retroposon. However, unlike many retroposon-derived genes, this gene is not a pseudogene. The encoded protein has similarity to HNRPG and RBMY proteins and it is suggested to replace HNRPG protein function during meiotic prophase or act as a germ cell-specific splicing regulator. It primarily localizes to the nuclei of meiotic spermatocytes. This gene is a candidate for autosomal male infertility. [provided by RefSeq, Jul 2008]

nudix (nucleoside diphosphate linked moiety X)-type motif 9 pseudogene 1

testis-specific transcript, Y-linked 23B (non-protein coding)

zinc finger protein 736 pseudogene 1, Y-linked

zinc finger protein 736 pseudogene 11, Y-linked

spastic paraplegia 16 (complicated, X-linked recessive)

family with sequence similarity 197, Y-linked, member 2, pseudogene

family with sequence similarity 197, Y-linked, member 1

family with sequence similarity 197, Y-linked, member 5, pseudogene

family with sequence similarity 197, Y-linked, member 8

family with sequence similarity 197, Y-linked, member 9

RNA binding motif protein, Y-linked, family 2, member T pseudogene

golgin A2 pseudogene 3, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 6, Y-linked

testis-specific transcript, Y-linked 6B (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

sorting nexin 18 pseudogene 1, Y-linked

Immunoneurologic syndrome X-linked, of Wood, Black, and Norbury

chromodomain protein, Y-linked 20 pseudogene

ubiquitin specific peptidase 9, Y-linked pseudogene 11

ubiquitin specific peptidase 9, Y-linked pseudogene 10

ubiquitin specific peptidase 9, Y-linked pseudogene 13

ubiquitin specific peptidase 9, Y-linked pseudogene 12

family with sequence similarity 41, member A, Y-linked 1

family with sequence similarity 41, member A, Y-linked 2

mental retardation, X-linked 37

mental retardation, X-linked 35

mental retardation, X-linked 31

mental retardation, X-linked 39

taxilin gamma pseudogene, Y-linked

Predicted to enable syntaxin binding activity. [provided by Alliance of Genome Resources, Mar 2025]

zinc finger, X-linked, duplicated B

The ZXDB gene is one of a pair of duplicated zinc finger genes on chromosome Xp11.21 (Greig et al., 1993 [PubMed 8268913]); see also ZXDA (MIM 300235).[supplied by OMIM, Jul 2010]

zinc finger, X-linked, duplicated A

This gene encodes one of two duplicated zinc finger genes on chromosome Xp11. This gene is the telomeric copy; GeneID 158586 ZXDB is the more centromeric copy. The two genes have 98% nucleotide sequence similarity, and the predicted proteins contain 10 tandem zinc finger motifs. [provided by RefSeq, Nov 2009]

tripartite motif containing 60 pseudogene 6, Y-linked

testis specific protein, Y-linked 25, pseudogene

XK, Kell blood group complex subunit-related, Y-linked pseudogene 6

XK, Kell blood group complex subunit-related, Y-linked pseudogene 4

XK, Kell blood group complex subunit-related, Y-linked pseudogene 5

XK, Kell blood group complex subunit-related, Y-linked pseudogene 2

XK, Kell blood group complex subunit-related, Y-linked pseudogene 3

XK, Kell blood group complex subunit-related, Y-linked pseudogene 1

T-complex protein 11 X-linked protein 2-like

armadillo repeat containing, X-linked 6

Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

armadillo repeat containing, X-linked 5

armadillo repeat containing, X-linked 4

The product of this gene belongs to the armadillo repeat-containing family of proteins, which interact with other proteins in a variety of cellular processes. The function of this family member is currently unknown. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

armadillo repeat containing, X-linked 3

This gene encodes a member of the ALEX family of proteins which may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and a single Armadillo (arm) repeat. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members on the X chromosome. Three transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

armadillo repeat containing, X-linked 2

This gene encodes a protein containing a potential N-terminal transmembrane domain and multiple armadillo (arm) repeats. Proteins containing arm repeats are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is located in a cluster of related genes on chromosome X. There is a pseudogene for this gene on chromosome 7. Alternative splicing in the 5' UTR results in multiple transcript variants encoding the same protein. [provided by RefSeq, Aug 2013]

armadillo repeat containing, X-linked 1

This gene encodes a member of the ALEX family of proteins and may play a role in tumor suppression. The encoded protein contains a potential N-terminal transmembrane domain and two Armadillo (arm) repeats. Other proteins containing the arm repeat are involved in development, maintenance of tissue integrity, and tumorigenesis. This gene is closely localized with other family members, including ALEX2 and ALEX3, on the X chromosome. [provided by RefSeq, Jul 2008]

testis specific protein, Y-linked 11, pseudogene

transducin (beta)-like 1, Y-linked pseudogene 1

chromodomain protein, Y-linked 12 pseudogene

deafness, X-linked 3

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase

This gene encodes a protein that belongs to a family of apoptotic suppressor proteins. Members of this family share a conserved motif termed, baculovirus IAP repeat, which is necessary for their anti-apoptotic function. This protein functions through binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2 and inhibits apoptosis induced by menadione, a potent inducer of free radicals, and interleukin 1-beta converting enzyme. This protein also inhibits at least two members of the caspase family of cell-death proteases, caspase-3 and caspase-7. Mutations in this gene are the cause of X-linked lymphoproliferative syndrome. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 2 and 11.[provided by RefSeq, Feb 2011]

RNA binding motif protein, Y-linked, family 2, member A pseudogene

proline rich, Y-linked

asparagine-linked glycosylation 1-like 5, pseudogene

testis-specific transcript, Y-linked 26, pseudogene

chromodomain protein, Y-linked 3 pseudogene

zinc finger protein 736 pseudogene 2, Y-linked

testis-specific transcript, Y-linked 2 (non-protein coding)

testis-specific transcript, Y-linked 3 (non-protein coding)

There are two copies of this gene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 1 (non-protein coding)

testis-specific transcript, Y-linked 6 (non-protein coding)

There are two copies of this locus in the P3 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 7 (non-protein coding)

testis-specific transcript, Y-linked 4 (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most centromeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 5 (non-protein coding)

There is a single copy of this gene on chromosome Y at the center of the P3 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 8 (non-protein coding)

OFD1 pseudogene 12, Y-linked

testis specific protein, Y-linked 19, pseudogene

RNA binding motif protein, X-linked-like 3 pseudogene

Hypospadias 4, X-linked, susceptibilty to

heat shock transcription factor, Y-linked 1

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

heat shock transcription factor, Y linked 2

This gene encodes a member of the heat shock factor (HSF) family of transcriptional activators for heat shock proteins. This gene is a candidate gene for azoospermia, since it localizes to a region of chromosome Y that is sometimes deleted in infertile males. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

pseudoautosomal boundary region, Y-linked

pseudoautosomal boundary region, X-linked

tripartite motif containing 60 pseudogene 5, Y-linked

retinitis pigmentosa 2 (X-linked recessive)

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

retinitis pigmentosa 6 (X-linked recessive)

Mental retardation, X-linked, syndromic 17

Mental retardation, X-linked, syndromic 12

mental retardation, X-linked, syndromic 11

hairy ears, Y-linked

testis specific protein, Y-linked 9, pseudogene

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 22

Enables UDP-sugar diphosphatase activity and metal ion binding activity. Located in nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 21

The protein encoded by this gene is one subunit of a cleavage factor required for 3' RNA cleavage and polyadenylation processing. The interaction of the protein with the RNA is one of the earliest steps in the assembly of the 3' end processing complex and facilitates the recruitment of other processing factors. This gene encodes the 25kD subunit of the protein complex, which is composed of four polypeptides. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 1, member A1 pseudogene

ubiquitin specific peptidase 9, Y-linked pseudogene 22

ubiquitin specific peptidase 9, Y-linked pseudogene 23

RNA binding motif protein, Y-linked, family 2, member Q pseudogene

OFD1 pseudogene 3, Y-linked

heat shock transcription factor, Y-linked 3, pseudogene

auditory neuropathy, X-linked recessive 1

matrix-remodelling associated 5, Y-linked, pseudogene

mental retardation, X-linked 69

mental retardation, X-linked 64

mental retardation, X-linked 65

mental retardation, X-linked 61

agammaglobulinemia, X-linked 2 (with growth hormone deficiency)

zinc finger protein, X-linked

This gene on the X chromosome is structurally similar to a related gene on the Y chromosome. It encodes a member of the krueppel C2H2-type zinc-finger protein family. The full-length protein contains an acidic transcriptional activation domain (AD), a nuclear localization sequence (NLS) and a DNA binding domain (DBD) consisting of 13 C2H2-type zinc fingers. Studies in mouse embryonic and adult hematopoietic stem cells showed that this gene was required as a transcriptional regulator for self-renewal of both stem cell types, but it was dispensable for growth and differentiation of their progeny. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2010]

family with sequence similarity 199, X-linked

surface antigen (X-linked) 3

surface antigen (X-linked) 2

testis specific protein, Y-linked 10

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in sex differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 22, pseudogene

testis-specific transcript, Y-linked 14 (non-protein coding)

testis-specific transcript, Y-linked 15 (non-protein coding)

testis-specific transcript, Y-linked 16 (non-protein coding)

testis-specific transcript, Y-linked 10 (non-protein coding)

testis-specific transcript, Y-linked 11 (non-protein coding)

testis-specific transcript, Y-linked 12 (non-protein coding)

testis-specific transcript, Y-linked 13 (non-protein coding)

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

testis-specific transcript, Y-linked 18 (non-protein coding)

testis-specific transcript, Y-linked 19 (non-protein coding)

testis-specific transcript, Y-linked 1B (non-protein coding)

dehydrogenase/reductase (SDR family) X-linked

Enables dolichal reductase activity and polyprenol dehydrogenase activity. Involved in dolichol biosynthetic process and positive regulation of autophagy. Located in extracellular region. Is active in lipid droplet. [provided by Alliance of Genome Resources, Mar 2025]

amelogenin, X-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

amelogenin, Y-linked

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008]

retinitis pigmentosa 24 (X-linked recessive)

protein kinase, Y-linked, pseudogene

This gene is similar to the protein kinase, X-linked gene in the pseudoautosomal region of the X chromosome. The gene is classified as a transcribed pseudogene because it has lost a coding exon that results in all transcripts being candidates for nonsense-mediated decay (NMD) and unlikely to express a protein. Abnormal recombination between this gene and a related gene on chromosome X is a frequent cause of XX males and XY females. [provided by RefSeq, Jul 2010]

protein kinase, X-linked

This gene encodes a serine threonine protein kinase that has similarity to the catalytic subunit of cyclic AMP dependent protein kinases. The encoded protein is developmentally regulated and may be involved in renal epithelial morphogenesis. This protein may also be involved in macrophage and granulocyte maturation. Abnormal recombination between this gene and a related pseudogene on chromosome Y is a frequent cause of sex reversal disorder in XX males and XY females. Pseudogenes of this gene are found on chromosomes X, 15 and Y. [provided by RefSeq, Feb 2010]

RNA binding motif protein, Y-linked, family 1, member A1

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein is thought to function as a splicing regulator during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

tripartite motif containing 60 pseudogene 8, Y-linked

testis-specific transcript, Y-linked 13C

RNA binding motif protein, Y-linked, family 2, member Y pseudogene

chromodomain protein, Y-linked 11 pseudogene

Armfield X-linked mental retardation syndrome

Lubs X-linked mental retardation syndrome

family with sequence similarity 197, Y-linked, member 10

RNA binding motif protein, Y-linked, family 2, member F pseudogene

Retinitis pigmentosa, Y-linked

thymosin beta 4, X-linked pseudogene 3

testis-specific transcript, Y-linked 29, pseudogene

cone dystrophy 2 (X-linked)

testis-specific transcript, Y-linked 9A (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 9B (non-protein coding)

This gene is transcribed but does not appear to encode a protein. Two identical copies of this gene are present in a palindromic region (P4) on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 11, Y-linked

testis specific protein, Y-linked 14, pseudogene

RNA binding motif protein, Y-linked, family 1, member A3 pseudogene

chromodomain protein, Y-linked 19 pseudogene

N-acetylated alpha-linked acidic dipeptidase 2

This gene is a member of the N-acetylated alpha-linked acidic dipeptidase (NAALADase) gene family. The representative member of this family is the gene encoding human prostate-specific membrane antigen (PSM), which is a marker of prostatic carcinomas and is the first to be shown to possess NAALADase activity. NAALADase cleaves N-acetyl-L-aspartate-L-glutamate (NAAG), which is a neuropeptide expressed both in the central nervous systems and in the periphery and is thought to function as a neurotransmitter. The product of this gene is a type II integral membrane protein. Transient transfection of this gene confers both NAALADase and dipetidyl peptidase IV activities to mammalian cells. This gene is highly expressed in ovary and testis as well as within discrete brain areas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

ribosomal protein S4, Y-linked 2 pseudogene

variable charge, X-linked

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 10 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

variable charge, Y-linked

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 2, member N pseudogene

integrin-linked kinase-associated serine/threonine phosphatase

The protein encoded by this gene is a protein serine/threonine phosphatase of the PP2C family. This protein can interact with integrin-linked kinase (ILK/ILK1), a regulator of integrin mediated signaling, and regulate the kinase activity of ILK. Through the interaction with ILK, this protein may selectively affect the signaling process of ILK-mediated glycogen synthase kinase 3 beta (GSK3beta), and thus participate in Wnt signaling pathway. [provided by RefSeq, Jul 2008]

eukaryotic translation initiation factor 1A, X-linked

This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]

eukaryotic translation initiation factor 1A, Y-linked

This gene is located on the non-recombining region of the Y chromosome. It encodes a protein related to eukaryotic translation initiation factor 1A (EIF1A), which may function in stabilizing the binding of the initiator Met-tRNA to 40S ribosomal subunits. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

protein kinase, X-linked, pseudogene 1

protein kinase, X-linked, pseudogene 2

zinc finger protein 92 pseudogene 1, Y-linked

testis-specific transcript, Y-linked 21B (non-protein coding)

heat shock transcription factor, X-linked-like

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

chromodomain protein, Y-linked 4 pseudogene

RNA binding motif protein, Y-linked, family 1, member C

Enables RNA binding activity and identical protein binding activity. Involved in regulation of RNA splicing. Located in nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

RNA binding motif protein, Y-linked, family 1, member B

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

RNA binding motif protein, Y-linked, family 1, member F

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 1, member E

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome P3, along with two copies of PTPN13-like, Y-linked. [provided by RefSeq, Jul 2008]

RNA binding motif protein, Y-linked, family 1, member D

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine, tyrosine) boxes in the C-terminus. This protein likely functions as a splicing factor during spermatogenesis. Multiple closely related paralogs of this gene are found in a gene cluster in the AZFb azoospermia factor region of chromosome Y. Most of these related copies are thought to be pseudogenes, though several likely encode functional proteins. [provided by RefSeq, Mar 2016]

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

phosphate regulating endopeptidase homolog, X-linked

The protein encoded by this gene is a transmembrane endopeptidase that belongs to the type II integral membrane zinc-dependent endopeptidase family. The protein is thought to be involved in bone and dentin mineralization and renal phosphate reabsorption. Mutations in this gene cause X-linked hypophosphatemic rickets. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

nudix (nucleoside diphosphate linked moiety X)-type motif 12

Nucleotides are involved in numerous biochemical reactions and pathways within the cell as substrates, cofactors, and effectors. Nudix hydrolases, such as NUDT12, regulate the concentrations of individual nucleotides and of nucleotide ratios in response to changing circumstances (Abdelraheim et al., 2003 [PubMed 12790796]).[supplied by OMIM, Mar 2008]

nudix (nucleoside diphosphate linked moiety X)-type motif 13

Predicted to enable NADH pyrophosphatase activity. Predicted to be involved in NADH metabolic process and NADP catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 10

This gene is a member of the nudix (nucleoside diphosphate linked moiety X)-type motif containing family. The encoded protein is a phosphohydrolase and may regulate the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to the regulation of intracellular trafficking. In some populations putative prostate cancer susceptibility alleles have been identified for this gene. Alternatively spliced transcript variants, which differ only in the 5' UTR, have been found for this gene. [provided by RefSeq, Feb 2015]

nudix (nucleoside diphosphate linked moiety X)-type motif 11

NUDT11 belongs to a subgroup of phosphohydrolases that preferentially attack diphosphoinositol polyphosphates (Hidaka et al., 2002 [PubMed 12105228]).[supplied by OMIM, Mar 2008]

nudix (nucleoside diphosphate linked moiety X)-type motif 17

Predicted to enable NADH pyrophosphatase activity. Predicted to be involved in NAD catabolic process; NADH metabolic process; and NADP catabolic process. Predicted to be active in peroxisome. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 14

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This enzyme contains a Nudix hydrolase domain and is a UDPG pyrophosphatase that hydrolyzes UDPG to produce glucose 1-phosphate and UMP. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

nudix (nucleoside diphosphate linked moiety X)-type motif 15

This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]

nudix (nucleoside diphosphate linked moiety X)-type motif 18

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. This protein contains a Nudix hydrolase domain and hydrolyzes oxidized forms of guanosine and deoxyguanosine diphosphates. [provided by RefSeq, Sep 2012]

nudix (nucleoside diphosphate linked moiety X)-type motif 19

Predicted to enable magnesium ion binding activity. Predicted to be involved in acyl-CoA metabolic process and coenzyme A catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

asparagine-linked glycosylation 1-like 8, pseudogene

RNA binding motif protein, Y-linked, family 2, member V pseudogene

nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1

Enables snoRNA binding activity. Involved in negative regulation of double-strand break repair via nonhomologous end joining. Located in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

OFD1 pseudogene 4, Y-linked

mental retardation, X-linked 57

mental retardation, X-linked 56

mental retardation, X-linked 51

mental retardation, X-linked 50

mental retardation, X-linked 53

mental retardation, X-linked 52

Miles-Carpenter X-linked mental retardation syndrome

basic charge, Y-linked, 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein interacts with ubiquitin protein ligase E3A and may be involved in male germ cell development and male infertility. Three nearly identical copies of this gene exist on chromosome Y; two copies are part of a palindromic region. This record represents the copy outside of the palidromic region. [provided by RefSeq, Jul 2008]

tripartite motif containing 60 pseudogene 1, Y-linked

testis-specific transcript, Y-linked 4C (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the most telomeric copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 4B (non-protein coding)

There are three copies of this gene on chromosome Y. This record represents the middle copy, which is within the P1 palindrome. [provided by RefSeq, Jul 2008]

chromodomain protein, Y-linked 6 pseudogene

chromodomain protein, Y-linked 22 pseudogene

asparagine-linked glycosylation 1-like 6, pseudogene

nudix (nucleoside diphosphate linked moiety X)-type motif 15 pseudogene 2

chondroitin sulfate proteoglycan 4 pseudogene 3, Y-linked

Prostate cancer, hereditary, X-linked 2

nudix (nucleoside diphosphate linked moiety X)-type motif 21 pseudogene 1

RNA binding motif protein, X-linked

This gene belongs to the RBMY gene family which includes candidate Y chromosome spermatogenesis genes. This gene, an active X chromosome homolog of the Y chromosome RBMY gene, is widely expressed whereas the RBMY gene evolved a male-specific function in spermatogenesis. Pseudogenes of this gene, found on chromosomes 1, 4, 9, 11, and 6, were likely derived by retrotransposition from the original gene. Alternatively spliced transcript variants encoding different isoforms have been identified. A snoRNA gene (SNORD61) is found in one of its introns. [provided by RefSeq, Sep 2009]

chromodomain protein, Y-linked 9 pseudogene

OFD1 pseudogene 14, Y-linked

ubiquitin specific peptidase 9, Y-linked pseudogene 7

ubiquitin specific peptidase 9, Y-linked pseudogene 6

ubiquitin specific peptidase 9, Y-linked pseudogene 9

ubiquitin specific peptidase 9, Y-linked pseudogene 8

testis specific protein, Y-linked 13, pseudogene

chromodomain protein, Y-linked 23 pseudogene

RNA binding motif protein, Y-linked, family 2, member C pseudogene

arthrogryposis, X-linked, type 5

Prieto X-linked mental retardation syndrome

PTPN13-like, Y-linked

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more telomeric copy. [provided by RefSeq, Aug 2024]

testis-specific transcript, Y-linked 24, pseudogene

nudix (nucleoside diphosphate linked moiety X)-type motif 8

Predicted to enable magnesium ion binding activity and manganese ion binding activity. Predicted to be involved in nucleoside phosphate catabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

nudix (nucleoside diphosphate linked moiety X)-type motif 9

The protein encoded by this gene belongs to the Nudix hydrolase family. Nudix boxes are found in a family of diverse enzymes that catalyze the hydrolysis of nucleoside diphosphate derivatives. This enzyme is an ADP-ribose pyrophosphatase that catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. It requires divalent metal ions and an intact Nudix motif for enzymatic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

nudix (nucleoside diphosphate linked moiety X)-type motif 1

Misincorporation of oxidized nucleoside triphosphates into DNA/RNA during replication and transcription can cause mutations that may result in carcinogenesis or neurodegeneration. The protein encoded by this gene is an enzyme that hydrolyzes oxidized purine nucleoside triphosphates, such as 8-oxo-dGTP, 8-oxo-dATP, 2-hydroxy-dATP, and 2-hydroxy rATP, to monophosphates, thereby preventing misincorporation. The encoded protein is localized mainly in the cytoplasm, with some in the mitochondria, suggesting that it is involved in the sanitization of nucleotide pools both for nuclear and mitochondrial genomes. Several alternatively spliced transcript variants, some of which encode distinct isoforms, have been identified. Additional variants have been observed, but their full-length natures have not been determined. A rare single-nucleotide polymorphism that results in the production of an additional, longer isoform (p26) has been described. [provided by RefSeq, Dec 2018]

nudix (nucleoside diphosphate linked moiety X)-type motif 2

This gene encodes a member of the MutT family of nucleotide pyrophosphatases, a subset of the larger NUDIX hydrolase family. The gene product possesses a modification of the MutT sequence motif found in certain nucleotide pyrophosphatases. The enzyme asymmetrically hydrolyzes Ap4A to yield AMP and ATP and is responsible for maintaining the intracellular level of the dinucleotide Ap4A, the function of which has yet to be established. This gene may be a candidate tumor suppressor gene. Alternative splicing has been observed at this locus and four transcript variants, all encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

nudix (nucleoside diphosphate linked moiety X)-type motif 3

NUDT3 belongs to the MutT, or Nudix, protein family. Nudix proteins act as homeostatic checkpoints at important stages in nucleoside phosphate metabolic pathways, guarding against elevated levels of potentially dangerous intermediates, like 8-oxo-dGTP, which promotes AT-to-CG transversions (Safrany et al., 1998 [PubMed 9822604]).[supplied by OMIM, Feb 2011]

nudix (nucleoside diphosphate linked moiety X)-type motif 4

The protein encoded by this gene regulates the turnover of diphosphoinositol polyphosphates. The turnover of these high-energy diphosphoinositol polyphosphates represents a molecular switching activity with important regulatory consequences. Molecular switching by diphosphoinositol polyphosphates may contribute to regulating intracellular trafficking. Several alternatively spliced transcript variants have been described, but the full-length nature of some variants has not been determined. Isoforms DIPP2alpha and DIPP2beta are distinguishable from each other solely by DIPP2beta possessing one additional amino acid due to intron boundary skidding in alternate splicing. [provided by RefSeq, Jul 2008]

nudix (nucleoside diphosphate linked moiety X)-type motif 5

This gene belongs to the Nudix (nucleoside diphosphate linked moiety X) hydrolase superfamily. The encoded enzyme catalyzes the hydrolysis of modified nucleoside diphosphates, including ADP-ribose (ADPR) and 8-oxoGua-containing 8-oxo-dADP and 8-oxo-dGDP. Protein-bound ADP ribose can be hazardous to the cell because it can modify some amino acid residues, resulting in the inhibition of ATP-activated potassium channels. 8-oxoGua is an oxidized form of guanine that can potentially alter genetic information by pairing with adenine and cytosine in RNA. Presence of 8-oxoGua in RNA results in formation of abnormal proteins due to translational errors. [provided by RefSeq, Aug 2013]

nudix (nucleoside diphosphate linked moiety X)-type motif 6

This gene overlaps and lies on the opposite strand from FGF2 gene, and is thought to be the FGF2 antisense gene. The two genes are independently transcribed, and their expression shows an inverse relationship, suggesting that this antisense transcript may regulate FGF2 expression. This gene has also been shown to have hormone-regulatory and antiproliferative actions in the pituitary that are independent of FGF2 expression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

nudix (nucleoside diphosphate linked moiety X)-type motif 7

The protein encoded by this gene is a member of the Nudix hydrolase family. Nudix hydrolases eliminate potentially toxic nucleotide metabolites from the cell and regulate the concentrations and availability of many different nucleotide substrates, cofactors, and signaling molecules. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

chromodomain protein, Y-linked, 1B

This gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. The human chromosome Y has two identical copies of this gene within a palindromic region; this record represents the more centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. Two protein isoforms are encoded by transcript variants of this gene. Additional transcript variants have been described, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]

RNA binding motif protein, X-linked 2 pseudogene 4

RNA binding motif protein, X-linked 2 pseudogene 5

RNA binding motif protein, X-linked 2 pseudogene 1

RNA binding motif protein, X-linked 2 pseudogene 2

RNA binding motif protein, X-linked 2 pseudogene 3

asparagine-linked glycosylation 1-like 15, pseudogene

asparagine-linked glycosylation 1-like 12, pseudogene

mental retardation, X-linked 66

mental retardation, X-linked 67

RNA binding motif protein, Y-linked, family 2, member K pseudogene

golgin A2 pseudogene 2, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more centromeric copy. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 9, Y-linked

heat shock transcription factor, Y-linked 4, pseudogene

TGFB-induced factor homeobox 2-like, Y-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]

TGFB-induced factor homeobox 2-like, X-linked

This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]

armadillo repeat containing, X-linked 2 pseudogene

ubiquitin specific peptidase 27, X-linked

This gene encodes a member of the peptidase protein family. The encoded protein functions as a deubiquitinase that is involved in upregulation of the pro-apoptotic Bim protein. This protein may act as a tumor suppressor by increasing levels of Bim to counteract anti-apoptotic signals in cancer cells. Mutations in this gene have been associated with X-linked cognitive disability. [provided by RefSeq, Dec 2016]

zinc finger protein 736 pseudogene 8, Y-linked

zinc finger protein, Y-linked

This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]

Cerebral-cerebellar-coloboma syndrome, X-linked

eukaryotic translation initiation factor 1A, X-linked pseudogene 1

testis-specific transcript, Y-linked 7B (non-protein coding)

RNA binding motif protein, Y-linked, family 1, member K, pseudogene

RNA binding motif protein, Y-linked, family 2, member S pseudogene

chromodomain protein, Y-linked 14 pseudogene

OFD1 pseudogene 1, Y-linked

mental retardation, X-linked 5

mental retardation, X-linked 4

mental retardation, X-linked 7

mental retardation, X-linked 6 (Okinawa type)

Xg pseudogene, Y-linked 1

Xg pseudogene, Y-linked 2

family with sequence similarity 197, Y-linked, member 3

asparagine-linked glycosylation 1-like 14, pseudogene

testis specific protein, Y-linked 7, pseudogene

asparagine-linked glycosylation 1-like 3, pseudogene

testis specific protein, Y-linked 24, pseudogene

XK, Kell blood group complex subunit-related, Y-linked 2

This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Nov 2020]

variable charge, Y-linked 1B

The protein encoded by this gene is a member of a family of human VCX/Y genes. This gene family has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. Members of the VCX/Y family share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. VCX/Y genes encode small and highly charged proteins of unknown function. This gene encodes a small, positively charged protein. The presence of a putative bipartite nuclear localization signal suggests that this gene encodes a nuclear protein. The genome has two identical copies of this gene within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

tripartite motif containing 60 pseudogene 12, Y-linked

mental retardation, X-linked 8

heat shock transcription factor, Y-linked 1 pseudogene 1

chromodomain protein, Y-linked 13 pseudogene

testis-specific transcript, Y-linked 8B (non-protein coding)

variable charge, X-linked 2

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes that are expressed exclusively in male germ cells. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This gene contains two copies of a 30 nt tandem repeat. Deletion of a nearby member of this family was implicated in cognitive disability. [provided by RefSeq, Feb 2015]

X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase pseudogene

mental retardation, X-linked 82

mental retardation, X-linked 80

mental retardation, X-linked 81

mental retardation, X-linked 86

mental retardation, X-linked 84

Mental retardation, X-linked 88

Mental retardation, X-linked 89

family with sequence similarity 197, Y-linked, member 6

family with sequence similarity 197, Y-linked, member 4, pseudogene

testis-specific transcript, Y-linked 27, pseudogene

chromodomain protein, Y-linked, 2A

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the telomeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

chromodomain protein, Y-linked, 2B

This intronless gene encodes a protein containing a chromodomain and a histone acetyltransferase catalytic domain. Chromodomain proteins are components of heterochromatin-like complexes and can act as gene repressors. This protein is localized to the nucleus of late spermatids where histone hyperacetylation takes place. Histone hyperacetylation is thought to facilitate the transition in which protamines replace histones as the major DNA-packaging protein. Two nearly identical copies of this gene are found in a palindromic region on chromosome Y; this record represents the centromeric copy. Chromosome Y also contains a pair of closely related genes in another more telomeric palindrome as well as several related pseudogenes. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 13, Y-linked

testis specific protein, Y-linked 16, pseudogene

sushi-repeat containing protein, X-linked 2

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010]

cardiomyopathy, restrictive 3A (X-linked)

mental retardation, X-linked 28

Spermatogenic failure, X-linked, 2

RNA binding motif protein, Y-linked, family 2, member H pseudogene

RNA binding motif protein, X-linked pseudogene 4

RNA binding motif protein, X-linked pseudogene 1

RNA binding motif protein, X-linked pseudogene 3

RNA binding motif protein, X-linked pseudogene 2

armadillo repeat containing, X-linked 7, pseudogene

chromodomain protein, Y-linked 8 pseudogene

Autism, X-linked, susceptibility to, 4

PTPN13-like, Y-linked 2

This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. Two nearly identical copies of this gene exist within a palindromic region. This record represents the more centromeric copy. [provided by RefSeq, Aug 2024]

tripartite motif containing 60 pseudogene 10, Y-linked

Corneal dystrophy, endothelial, X-linked

zinc finger protein 736 pseudogene 9, Y-linked

Mental retardation, X-linked, syndromic, Chudley-Schwartz type

OFD1 pseudogene 2, Y-linked

mental retardation, X-linked 73

mental retardation, X-linked 71

mental retardation, X-linked 70

mental retardation, X-linked 75

transducin (beta)-like 1X-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]

transducin (beta)-like 1, Y-linked

The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]

testis-specific transcript, Y-linked 31, pseudogene

thymosin beta 4, X-linked pseudogene 7

thymosin beta 4, X-linked pseudogene 5

thymosin beta 4, X-linked pseudogene 2

thymosin beta 4, X-linked pseudogene 1

thymosin beta 4, X-linked pseudogene 8

RNA binding motif protein, X-linked 2

Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in endoplasmic reticulum; nuclear membrane; and nucleolus. Part of U2-type precatalytic spliceosome. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein, Y-linked 21, pseudogene

testis-specific transcript, Y-linked 2B (non-protein coding)

testis-specific transcript, Y-linked 21 (non-protein coding)

testis-specific transcript, Y-linked 20 (non-protein coding)

testis-specific transcript, Y-linked 23 (non-protein coding)

testis-specific transcript, Y-linked 22 (non-protein coding)

inhibitor of growth family, X-linked, pseudogene

mental retardation, X-linked, syndromic 7

tripartite motif containing 60 pseudogene 11, Y-linked

integrin-linked kinase

This gene encodes a protein with a kinase-like domain and four ankyrin-like repeats. The encoded protein associates at the cell membrane with the cytoplasmic domain of beta integrins, where it regulates integrin-mediated signal transduction. Activity of this protein is important in the epithelial to mesenchymal transition, and over-expression of this gene is implicated in tumor growth and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]

RNA binding motif protein, Y-linked, family 2, member X pseudogene

transducin (beta)-like 1 X-linked receptor 1

This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]

testis specific protein, Y-linked 26, pseudogene

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in nucleosome assembly. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

RNA binding motif protein, Y-linked, family 2, member E pseudogene

RNA binding motif protein, Y-linked, family 3, member A pseudogene

Mental retardation, X-linked, with short stature

chondroitin sulfate proteoglycan 4 pseudogene 1, Y-linked

There are two copies of this pseudogene within the P1 palindrome on chromosome Y. This record represents the more telomeric copy. [provided by RefSeq, Jul 2008]

OFD1 pseudogene 16, Y-linked

testis specific protein, Y-linked 15, pseudogene

tripartite motif containing 60 pseudogene 3, Y-linked

chromodomain protein, Y-linked 16 pseudogene

Thrombocytosis, familial X-linked

mental retardation, X-linked 77

mental retardation, X-linked 78

RNA binding motif protein, Y-linked, family 2, member M pseudogene

variable charge, X-linked 3B

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22, and the Y-linked members are two identical copies of the gene within a palindromic region on chromosome Yq11. The family members share a high degree of sequence identity, with the exception that a 30-nt unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. This family member, as represented by the reference genome allele, contains 14 copies of the 30-nt repeat unit. VCX/Y genes encode small and highly charged proteins containing putative bipartite nuclear localization signals. Although the exact function of this family member has yet to be determined, a role in mRNA stability regulation can be inferred from the ability of the highly similar family member, VCX-A, to inhibit mRNA decapping. A possible role in the regulation of ribosome assembly during spermatogenesis has also been suggested. [provided by RefSeq, Aug 2010]

variable charge, X-linked 3A

This gene belongs to the VCX/Y gene family, which has multiple members on both X and Y chromosomes, and all are expressed exclusively in male germ cells. The X-linked members are clustered on chromosome Xp22 and Y-linked members are two identical copies of the gene within a palindromic region on Yq11. The family members share a high degree of sequence identity, with the exception that a 30-bp unit is tandemly repeated in X-linked members but occurs only once in Y-linked members. The VCX gene cluster is polymorphic in terms of copy number; different individuals may have a different number of VCX genes. VCX/Y genes encode small and highly charged proteins of unknown function. The presence of a putative bipartite nuclear localization signal suggests that VCX/Y members are nuclear proteins. This gene contains 8 repeats of the 30-bp unit. [provided by RefSeq, Jul 2008]

sushi-repeat containing protein, X-linked

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in phagolysosome assembly. Predicted to act upstream of or within several processes, including negative regulation of cell proliferation involved in contact inhibition; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand; and response to endoplasmic reticulum stress. Located in collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Mar 2025]

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

spinocerebellar ataxia, X-linked 2

spinocerebellar ataxia, X-linked 3

spinocerebellar ataxia, X-linked 4

Spinocerebellar ataxia, X-linked 5

tripartite motif containing 60 pseudogene 9, Y-linked

protocadherin 11 X-linked

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

protocadherin 11 Y-linked

This gene belongs to the protocadherin family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing seven cadherin repeats, a transmembrane domain, and a cytoplasmic tail that differs from those of the classical cadherins. This gene is located on the Y chromosome in a block of X/Y homology and is very closely related to its paralog on the X chromosome. The protein is thought to play a role in cell-cell recognition during development of the central nervous system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]

chromodomain protein, Y-linked 7 pseudogene

zinc finger protein 736 pseudogene 6, Y-linked

nudix (nucleoside diphosphate linked moiety X)-type motif 19 pseudogene 2

zinc finger protein 736 pseudogene 10, Y-linked

asparagine-linked glycosylation 1-like 9, pseudogene

heat shock transcription factor, X-linked-like

Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

ubiquitin specific peptidase 9, Y-linked pseudogene 19

RNA binding motif protein, Y-linked, family 2, member U pseudogene

DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked

The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked

The protein encoded by this gene is a member of the DEAD-box RNA helicase family, characterized by nine conserved motifs, included the conserved Asp-Glu-Ala-Asp (DEAD) motif. These motifs are thought to be involved in ATP binding, hydrolysis, RNA binding, and in the formation of intramolecular interactions. This protein shares high similarity to DDX3X, on the X chromosome, but a deletion of this gene is not complemented by DDX3X. Mutations in this gene result in male infertility, a reduction in germ cell numbers, and can result in Sertoli-cell only sydrome. Pseudogenes sharing similarity to both this gene and the DDX3X paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

OFD1 pseudogene 7, Y-linked

chromodomain protein, Y-linked 15 pseudogene

MAGI family member, X-linked

Diabetes mellitus, insulin-dependent, X-linked, susceptibility to

XK, Kell blood group complex subunit-related, Y-linked

This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Nov 2020]

XK, Kell blood group complex subunit-related, X-linked

This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]

sorting nexin 3 pseudogene 1, X-linked

sorting nexin 3 pseudogene 1, Y-linked

myopia 1 (X-linked)

thymosin beta 4, X-linked pseudogene 6

thymosin beta 4, X-linked pseudogene 4

testis specific protein, Y-linked 6, pseudogene

ribosomal protein S4, X-linked

Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]

chromodomain protein, Y-linked 21 pseudogene

small muscle protein, X-linked

This gene encodes a small protein that has no known functional domains. Mutations in this gene are a cause of X-linked deafness-4, and the encoded protein may play a role in the maintenance of inner ear cells subjected to mechanical stress. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2011]

ubiquitin specific peptidase 12 pseudogene, X-linked

ubiquitin specific peptidase 12 pseudogene, Y-linked

mental retardation, X-linked 20

mental retardation, X-linked 23

mental retardation, X-linked 24

mental retardation, X-linked 25

mental retardation, X-linked 26

mental retardation, X-linked 27

nudix (nucleoside diphosphate linked moiety X)-type motif 16 pseudogene 1

testis specific protein, Y-linked 5, pseudogene

testis-specific transcript, Y-linked 30, pseudogene

OFD1 pseudogene 15, Y-linked

family with sequence similarity 197, Y-linked, member 7, pseudogene

tripartite motif containing 60 pseudogene 4, Y-linked

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]

transducin (beta)-like 1 X-linked receptor 1 pseudogene

deafness, Y-linked 1

RNA binding motif protein, Y-linked, family 2, member B pseudogene

chondroitin sulfate proteoglycan 4 pseudogene 4, Y-linked

thymosin beta 4, X-linked pseudogene

RPA1 related single stranded DNA binding protein, X-linked

Enables single-stranded DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in nuclear speck and replication fork. [provided by Alliance of Genome Resources, Mar 2025]

brain expressed X-linked 3

Enables identical protein binding activity. Predicted to be involved in negative regulation of protein ubiquitination and signal transduction. Predicted to act upstream of or within extrinsic apoptotic signaling pathway via death domain receptors. Located in cytosol. [provided by Alliance of Genome Resources, Mar 2025]

testis specific protein Y-linked 9

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

heat shock transcription factor family, X-linked member 3

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]

heat shock transcription factor family, X-linked member 4

Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Mar 2025]