Acyl-Coa Dehydrogenase (ACADL) Human Recombinant Protein

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. [provided by RefSeq, Jul 2008]

ACADL: Defects in ACADL are a cause of acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD). An inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation. It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset, high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting. Belongs to the acyl-CoA dehydrogenase family.

Protein type: EC 1.3.8.8; Lipid Metabolism - fatty acid; Mitochondrial; Oxidoreductase

Chromosomal Location of Human Ortholog: 2q34

Cellular Component: mitochondrion; mitochondrial matrix; mitochondrial membrane; cytoplasm

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

Biological Process: carnitine metabolic process, CoA-linked; fatty acid beta-oxidation; cellular lipid catabolic process; carnitine catabolic process; 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; protein homotetramerization; long-chain fatty acid catabolic process