Bio 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. |
Bio References |
Ohkuma, A., et al. Muscle Nerve 39(3):333-342(2009) Chiong, M.A., et al. Mol. Genet. Metab. 92 (1-2), 109-114 (2007) : Olsen, J.V., et al. Cell 127(3):635-648(2006) Olsen, J.V., et al. Cell 127(3):635-648(2006) Schiff, M., et al. Mol. Genet. Metab. 88(2):153-158(2006) |