ACADVL Antibody – Rabbit Polyclonal

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]

ACADVL: 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. Defects in ACADVL are the cause of acyl-CoA dehydrogenase very long chain deficiency (ACADVLD). ACADVLD is an autosomal recessive disease which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form, with early onset, high mortality, and high incidence of cardiomyopathy; a milder childhood form, with later onset, usually with hypoketotic hypoglycemia as the main presenting feature, low mortality, and rare cardiomyopathy; and an adult form, with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria, usually triggered by exercise or fasting. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.3.8.9; Lipid Metabolism - fatty acid; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: cytosol; mitochondrial matrix; mitochondrion; nucleolus; nucleus

Molecular Function: acyl-CoA dehydrogenase activity; long-chain-acyl-CoA dehydrogenase activity

Biological Process: energy derivation by oxidation of organic compounds; epithelial cell differentiation; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; negative regulation of fatty acid biosynthetic process; negative regulation of fatty acid oxidation; thermoregulation

Disease: Acyl-coa Dehydrogenase, Very Long-chain, Deficiency Of