ETFA Antibody – Rabbit Polyclonal

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]

ETFA: The electron transfer flavoprotein serves as a specific electron acceptor for several dehydrogenases, including five acyl- CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase). Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A); also known as glutaricaciduria IIA. GA2A is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It is characterized by multiple acyl-CoA dehydrogenase deficiencies resulting in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Belongs to the ETF alpha-subunit/FixB family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 15q23-q25

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: FAD binding; electron carrier activity; oxidoreductase activity

Biological Process: cellular metabolic process

Disease: Multiple Acyl-coa Dehydrogenase Deficiency