Acyl-Coa Dehydrogenase (ACADVL) Human Recombinant Protein

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

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial inner membrane; cytoplasm; nucleolus; nucleus

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

Biological Process: unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; fatty acid beta-oxidation; epithelial cell differentiation; unfolded protein response; cellular lipid metabolic process; thermoregulation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; negative regulation of fatty acid biosynthetic process; negative regulation of fatty acid oxidation; energy derivation by oxidation of organic compounds

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