ACADM

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]

Description

acyl-CoA dehydrogenase, C-4 to C-12 straight chain

Protein family

Enzymes

Chromosome

1:p31.1 (76190036 - 76253260)

Ensembl ID

ENSG00000117054  (ver. 69.37)

Orthologs

Mouse Acadm: ENSMUSG00000062908

Human splice variants
Mouse splice variants