Synonyms:
ACADM; ACAD 1; ACAD1; Acadm; ACADM_HUMAN; Acyl coenzyme A dehydrogenase; Acyl coenzyme A dehydrogenase C 4 to C 12 straight chain; FLJ18227; FLJ93013; FLJ99884; MCAD; MCADH; Medium chain acyl CoA dehydrogenase; Medium chain fatty acyl CoA dehydrogenase; Medium chain specific acyl CoA dehydrogenase; Medium chain specific acyl CoA dehydrogenase mitochondrial; Medium-chain specific acyl-CoA dehydrogenase; mitochondrial.
Introduction:
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.