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MCAD / ACADM is 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.
Gene Name: | acyl-CoA dehydrogenase, C-4 to C-12 straight chain |
Synonyms: | ACADM, ACAD1, MCAD, MCADH |
Target Sequences: | NM_000016 NP_000007.1 P11310 |
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