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

Tissue specificity

Tissue enhanced (liver, skeletal muscle, tongue)

Subcell location

Mitochondria

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

1:p31.1 (75724431 - 75787575)

Ensembl ID

ENSG00000117054  (ver. 103.38)

Orthologs

Mouse Acadm: ENSMUSG00000062908

UniProt

P11310

neXtProt

NX_P11310

Human splice variants
Mouse splice variants