ACADM, Medium-chain specific acyl-CoA dehydrogenase, mitochondrial, MCAD
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],catalytic activity:Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor.,cofactor:FAD.,disease:Defects in ACADM are the cause of medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]. It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy. The disease frequency is one in 13000.,function:This enzyme is specific for acyl chain lengths of 4 to 16.,miscellaneous:A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.,miscellaneous:Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).,pathway:Lipid metabolism, mitochondrial fatty acid beta-oxidation.,similarity:Belongs to the acyl-CoA dehydrogenase family.,subunit:Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF.,
