Acyl-Coenzyme A Dehydrogenase (ACADM) Human Recombinant Protein

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ACADM: This enzyme is specific for acyl chain lengths of 4 to 16. Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD). It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Other Amino Acids Metabolism - beta-alanine; Amino Acid Metabolism - valine, leucine and isoleucine degradation; Carbohydrate Metabolism - propanoate; Lipid Metabolism - fatty acid; Oxidoreductase; EC 1.3.8.7; Mitochondrial

Chromosomal Location of Human Ortholog: 1p31

Cellular Component: mitochondrion; mitochondrial matrix; axon; nucleus

Molecular Function: acyl-CoA dehydrogenase activity; identical protein binding; FAD binding

Biological Process: carnitine metabolic process, CoA-linked; fatty acid beta-oxidation; medium-chain fatty acid catabolic process; cellular lipid metabolic process; medium-chain fatty acid metabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; carnitine biosynthetic process

Disease: Acyl-coa Dehydrogenase, Medium-chain, Deficiency Of