ETFDH
Function
Accepts electrons from ETF and reduces ubiquinone.
Involvement in disease
Glutaric aciduria 2C
GA2C
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.
Sequence Similarities
Belongs to the ETF-QO/FixC family.
Cellular localization
- Mitochondrion inner membrane
Alternative names
ETF-QO, ETF-ubiquinone oxidoreductase, Electron-transferring-flavoprotein dehydrogenase, ETF dehydrogenase, ETFDH