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ETFA
Official Full Name
electron-transfer-flavoprotein, alpha polypeptide
Background
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.
Synonyms
ETFA; electron-transfer-flavoprotein, alpha polypeptide; electron transfer flavoprotein subunit alpha, mitochondrial; EMA; GA2; glutaric aciduria II; MADD; Alpha ETF; Alpha-ETF; Electron transfer flavoprotein alpha polypeptide; Electron transfer flavoprotein alpha subunit; Electron transfer flavoprotein subunit alpha mitochondrial; Electron transferring flavoprotein alpha polypeptide; ETFA_HUMAN; MS782; electron transfer flavoprotein alpha-subunit; electron transfer flavoprotein, alpha polypeptide