| UniProt Protein Function: | ETFA: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A); also known as glutaricaciduria IIA. GA2A is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Belongs to the ETF alpha-subunit/FixB family. 2 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Mitochondrial Chromosomal Location of Human Ortholog: 15q23-q25 Cellular Component: mitochondrial matrix; mitochondrion Molecular Function:acyl-CoA binding; acyl-CoA dehydrogenase activity; electron carrier activity; FAD binding; oxidoreductase activity Biological Process: fatty acid beta-oxidation using acyl-CoA dehydrogenase; lipid homeostasis Disease: Multiple Acyl-coa Dehydrogenase Deficiency |
| NCBI Summary: | ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P13804 |
| NCBI GenInfo Identifier: | 119636 |
| NCBI Gene ID: | 2108 |
| NCBI Accession: | P13804.1 |
| UniProt Secondary Accession: | P13804,Q53XN3, B4DT43, |
| UniProt Related Accession: | P13804 |
| Molecular Weight: | 30,026 Da |
| NCBI Full Name: | Electron transfer flavoprotein subunit alpha, mitochondrial |
| NCBI Synonym Full Names: | electron transfer flavoprotein alpha subunit |
| NCBI Official Symbol: | ETFA |
| NCBI Official Synonym Symbols: | EMA; GA2; MADD |
| NCBI Protein Information: | electron transfer flavoprotein subunit alpha, mitochondrial |
| UniProt Protein Name: | Electron transfer flavoprotein subunit alpha, mitochondrial |
| Protein Family: | Electron transfer flavoprotein |
| UniProt Gene Name: | ETFA |
| UniProt Entry Name: | ETFA_HUMAN |
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