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]
Aliases : EMA; GA2; MADD
Entrez GeneID: 2108
Swissprot : P13804
WB Predicted band size: 35kDa
Host/Isotype: Mouse IgG2a
Species Reactivity : Human
Immunogen: Purified recombinant fragment of human ETFA (AA: 134-333) expressed in E. Coli.