ACADVL Anticuerpo(N-16): sc-74900

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ACADVL (acyl-Coenzyme A dehydrogenase, very long chain), also known as VLCAD, LCACD or ACAD6, is an inner mitochondrial membrane protein that belongs to the family of acyl-CoA dehydrogenases. Involved in lipid metabolism, ACADVL has catalytic activity toward esters of long chain and very long chain fatty acids and functions in the first step of the fatty acid beta-oxidation pathway. Defects in the gene encoding ACADVL are the cause of very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency), an autosomal recessive disease that leads to impaired long-chain fatty acid oxidation. VLCAD deficiency can give rise to three different phenotypes: a severe childhood form with a high incidence of mortality and cardiomyopathy; a mild childhood form with hypoketotic hypoglycemia and low mortality rates; and an adult form characterized by myoglobinuria and rhabdomyolysis. Two isoforms of ACADVL exist due to alternative splicing events.