background:
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].
Function:
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).
Subunit:
Heterodimer of an alpha and a beta subunit.
Subcellular Location:
Mitochondrion matrix.
Post-translational modifications:
The N-terminus is blocked
DISEASE:
Defects in ETFA are the cause of glutaric aciduria type 2A (GA2A) [MIM:23336]; 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.
Similarity:
Belongs to the ETF alpha-subunit/FixB family.
Database links:
Entrez Gene: 2108 Human
Entrez Gene: 110842 Mouse
Entrez Gene: 300726 Rat
Omim: 608053 Human
SwissProt: P2764 Human
SwissProt: Q99LC5 Mouse
SwissProt: P2763 Rat
Unigene: 39925 Human
Unigene: 290853 Mouse
Unigene: 32496 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
Involvement in disease: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.
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