Description
Product Characteristics:
ACADM protein is a medium chain specific (C4 to C12 straight chain) acyl Coenzyme A dehydrogenase. The enzyme catalyzes the initial step of the mitochondrial fatty acid beta oxidation pathway. ACADM expression is induced during periods of fasting, when reliance on fatty acids for energy is increased. Clinical phenotypes are associated with ACADM hereditary deficiency.
Subcellular location: Cytoplasm
Synonyms: mitochondrial antibody, ACAD 1, ACAD1, Acyl coenzyme A dehydrogenase, Acyl coenzyme A dehydrogenase C 4 to C 12 straight chain, MCAD, MCADH, Medium chain acyl CoA dehydrogenase, Medium chain fatty acyl CoA dehydrogenase, Medium chain specic acyl CoA dehydrogenase, Medium chain specic acyl CoA dehydrogenase mitochondrial, FLJ18227, FLJ93013, FLJ99884, ACADM_HUMAN.
Target Information: 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]