靶标:
ETFA
产品别名:
EMA; GA2; MADD; ETFA; electron transfer flavoprotein subunit alpha; electron transfer flavoprotein subunit alpha; electron transfer flavoprotein subunit alpha, mitochondrial; alpha-ETF; electron transfer flavoprotein alpha subunit; electron transfer flavoprotein, alpha polypeptide; epididymis secretory sperm binding protein; glutaric aciduria II; 电子转移黄素蛋白α; 电子转移黄素蛋白α肽(ETFa);
背景信息:
The human ETFA gene encodes the Electron-transfer-flavoprotein, alpha subunit, also known as ETF-α. Together with Electron-transfer-flavoprotein, beta subunit, encoded by the 'ETFB' gene, it forms the heterodimericElectron transfer flavoprotein (ETF). 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.