ACADVL

The protein encoded by this gene is targeted to the inner mitochondrial membrane where it catalyzes the first step of the mitochondrial fatty acid beta-oxidation pathway. This acyl-Coenzyme A dehydrogenase is specific to long-chain and very-long-chain fatty acids. A deficiency in this gene product reduces myocardial fatty acid beta-oxidation and is associated with cardiomyopathy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Description

acyl-CoA dehydrogenase very long 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

17:p13.1 (7217125 - 7225266)

Ensembl ID

ENSG00000072778  (ver. 99.38)

Orthologs

Mouse Acadvl: ENSMUSG00000018574

UniProt

P49748

neXtProt

NX_P49748

Human splice variants
Mouse splice variants