Protein Name | electron transfer flavoprotein subunit alpha |
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Organism | Homo sapiens |
Gene ID | 2108 |
Gene Symbol | ETFA |
UniProt | P13804 (ETFA_HUMAN), A0A0S2Z3L0 (A0A0S2Z3L0_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
79
Total Number of Articles : 75 |
Description |
electron transfer flavoprotein subunit alpha |
Gene 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] |
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Properties | |