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.
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Protein Aliases: acyl-CoA dehydrogenase C-4 to C-12 straight chain; acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain; FLJ18227; FLJ93013; FLJ99884; MCAD; MCADH; Medium chain acyl-CoA dehydrogenase; Medium-chain specific acyl-CoA dehydrogenase, mitochondrial; RP4-682C21.1; testicular tissue protein Li 7
Gene Aliases: ACAD1; ACADM; MCAD; MCADH
UniProt ID: (Human) P11310
Entrez Gene ID: (Human) 34
Molecular Function: dehydrogenase