Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETFDH)

Electron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrial (ETFDH) is a monomeric enzyme anchored in the inner mitochondrial membrane that plays a critical role in mitochondrial energy metabolism. ETFDH is the terminal electron acceptor in the metabolism of fatty acids and some amino acids, transferring electrons from electron-transfer flavoprotein (ETF) in the mitochondrial matrix to ubiquinone in the membrane, thereby linking the oxidation of substrates to the respiratory chain and ATP production[1][2]. The enzyme contains a FAD prosthetic group and a 4Fe-4S cluster, with a unique structural arrangement to facilitate electron transfer and ubiquinone reduction[2][5][6]. Mutations in the ETFDH gene result in impaired oxidation of fats and proteins, causing metabolic diseases such as multiple acyl-CoA dehydrogenase deficiency (MADD; glutaric acidemia type II)[1][2][3][4][5]. These conditions may be responsive to supplemental riboflavin, carnitine, or coenzyme Q10 depending on the underlying mutation[1][2].

Other names

Electron transfer flavoprotein dehydrogenaseETF-QOETF-ubiquinone oxidoreductaseElectron-transferring-flavoprotein dehydrogenaseMultiple acyl-CoA dehydrogenase deficiency protein (MADD protein)ETFQOETFDHETF dehydrogenasemutant electron transfer flavoprotein dehydrogenaseETFDH_HUMAN

Drugs and supplements (riboflavin, carnitine, Coenzyme Q10) function by rescuing defective electron transport and improving mitochondrial substrate oxidation