Species Human Entrez 2108 | Human Mouse Ensembl ENSG00000140374 | |
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Aliases ETFA, EMA, GA2, MADD, electron transfer flavoprotein alpha subunit External IDs MGI: 106092 HomoloGene: 100 GeneCards: ETFA |
Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II), also known as ETFA, is a protein which in humans is encoded by the ETFA gene.
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.
References
ETFA Wikipedia(Text) CC BY-SA