ETFA

Domain I shares an identical polypeptide fold with the beta subunit ETFB though there is no sequence similarity.

Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase (PubMed:10356313, PubMed:15159392, PubMed:15975918, PubMed:27499296, PubMed:9334218). It transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:9334218). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:12815589, PubMed:1430199, PubMed:1882842).

Glutaric aciduria 2A

GA2A

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.

None

The disease is caused by variants affecting the gene represented in this entry.

The N-terminus is blocked.

Belongs to the ETF alpha-subunit/FixB family.

• Mitochondrion matrix

Alpha-ETF, ETFA

• entrezGene:2108
• omim:608053
• swissprot:P13804

Proteins

35080Da