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 medium chain

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

1:p31.1 (75724347 - 75787575)

Ensembl ID

ENSG00000117054  (ver. 99.38)

Orthologs

Mouse Acadm: ENSMUSG00000062908

UniProt

P11310

neXtProt

NX_P11310

Human splice variants
Mouse splice variants