Full name: electron transfer flavoprotein subunit alpha

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: EMA; GA2; MADD

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]

Expression: Ubiquitous expression in liver (RPKM 95.3), heart (RPKM 73.2) and 25 other tissues

Gene size: 96117bp

Exon count: 13