Harmonizome 3.0

methylmalonic aciduria (cobalamin deficiency) cblA type

The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

methylmalonic aciduria (cobalamin deficiency) cblB type

This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]

Split-hand/foot malformation with long bone deficiency 3

Glucocorticoid deficiency 2

glucocorticoid deficiency 3

immunoglobulin A (IgA) deficiency susceptibility 1

methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria

The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009]

Split-hand/foot malformation with long deficiency 2

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria

This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]

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

Radial ray deficiency

multiple coagulation factor deficiency 2 pseudogene 1

Split-hand/foot malformation with long bone deficiency 1

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria pseudogene

candidiasis, nail 1 (with ICAM1 deficiency)

multiple coagulation factor deficiency 2

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]

Natural killer cell deficiency, familial isolated

succinate receptor 1

This gene encodes a G-protein-coupled receptor for succinate, an intermediate molecule of the citric acid cycle. It is involved in the promotion of hematopoietic progenitor cell development, and it has a potential role in renovascular hypertension which has known correlations to renal failure, diabetes and atherosclerosis. [provided by RefSeq, Oct 2009]

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]

succinate dehydrogenase complex, subunit D, integral membrane protein

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]

succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa pseudogene

succinate dehydrogenase complex, subunit C pseudogene 1

succinate dehydrogenase complex, subunit C pseudogene 2

succinate dehydrogenase complex, subunit C pseudogene 3

succinate dehydrogenase complex, subunit C pseudogene 4

succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 7

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 6

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 5

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 4

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 3

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 2

succinate dehydrogenase complex, subunit D, integral membrane protein pseudogene 1

succinate dehydrogenase complex assembly factor 1

The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria, and is essential for SDH assembly, but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH-defective infantile leukoencephalopathy (mitochondrial complex II deficiency).[provided by RefSeq, Mar 2010]

succinate dehydrogenase complex assembly factor 2

This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]

succinate dehydrogenase complex assembly factor 3

Predicted to be involved in mitochondrial respiratory chain complex II assembly; regulation of gluconeogenesis; and succinate metabolic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

succinate dehydrogenase complex assembly factor 4

Predicted to enable enzyme activator activity. Involved in cellular respiration and mitochondrial respiratory chain complex II assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3

succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1