{"symbol":"ETFA","synonyms":["GA2","MADD","EMA"],"name":"electron-transfer-flavoprotein, alpha polypeptide","description":"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]","ncbiEntrezGeneId":2108,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2108","proteins":[{"symbol":"ETFA_HUMAN","href":"/api/1.0/protein/ETFA_HUMAN"}],"hgncRootFamilies":[]}