Electron-transferring-flavoprotein dehydrogenase in the inner mitochondrial membrane accepts electrons from electron-transfer flavoprotein which is located in the mitochondrial matrix and reduces ubiquinone in the mitochondrial membrane. The protein is synthesized as a 67-kDa precursor which is targeted to mitochondria and processed in a single step to a 64-kDa mature form located in the mitochondrial membrane. Deficiency in electron-transferring-flavoprotein dehydrogenase have been demonstrated in some patients with type II glutaricacidemia. [provided by RefSeq, Jul 2008].
Function:
Accepts electrons from ETF and reduces ubiquinone.
Subunit:
Monomer.
Subcellular Location:
Mitochondrion inner membrane.
DISEASE:
Defects in ETFDH are the cause of glutaric aciduria type 2C (GA2C) [MIM:23336]. 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.
Similarity:
Belongs to the ETF-QO/fixC family.
Contains 1 4Fe-4S ferredoxin-type domain.
SWISS:
Q16134
Gene ID:
2110
Database links:
Entrez Gene: 713674 Cow
Entrez Gene: 2110 Human
Entrez Gene: 66841 Mouse
Entrez Gene: 295143 Rat
Omim: 231675 Human
SwissProt: Q2KIG0 Cow
SwissProt: Q16134 Human
SwissProt: Q921G7 Mouse
SwissProt: Q6UPE1 Rat
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