ETFDH Antibody – Rabbit Polyclonal

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

ETFDH: Accepts electrons from ETF and reduces ubiquinone. Defects in ETFDH are the cause of glutaric aciduria type 2C (GA2C). GA2C 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-QO/FixC family.

Protein type: Mitochondrial; Membrane protein, integral; Oxidoreductase; EC 1.5.5.1

Chromosomal Location of Human Ortholog: 4q32-q35

Cellular Component: mitochondrial matrix; mitochondrial membrane; integral to mitochondrial inner membrane

Molecular Function: ubiquinone binding; FAD binding; electron carrier activity; metal ion binding; 4 iron, 4 sulfur cluster binding; oxidoreductase activity, oxidizing metal ions with flavin as acceptor; oxidoreductase activity; quinone binding; electron-transferring-flavoprotein dehydrogenase activity

Biological Process: cellular metabolic process; response to oxidative stress; fatty acid beta-oxidation using acyl-CoA dehydrogenase

Disease: Multiple Acyl-coa Dehydrogenase Deficiency