Acyl Coenzyme A Dehydrogenase, Short/Very Long Chain (ACADVL)

ACADVL 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. Defects in ACADVL are the cause of very long chain acyl- CoA dehydrogenase deficiency (VLCAD deficiency) . VLCAD deficiency is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. VLCAD expression in all tissues examined, with highest expression in heart and skeletal muscle, followed by placenta and pancreas.