Aliases for ACADVL Gene
External Ids for ACADVL Gene
Previous GeneCards Identifiers for ACADVL Gene
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]
GeneCards Summary for ACADVL Gene
ACADVL (Acyl-CoA Dehydrogenase Very Long Chain) is a Protein Coding gene. Diseases associated with ACADVL include Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of and Metabolic Encephalomyopathic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and acyl-CoA dehydrogenase activity. An important paralog of this gene is ACAD9.
UniProtKB/Swiss-Prot for ACADVL Gene
Active toward esters of long-chain and very long chain fatty acids such as palmitoyl-CoA, mysritoyl-CoA and stearoyl-CoA. Can accommodate substrate acyl chain lengths as long as 24 carbons, but shows little activity for substrates of less than 12 carbons.