Recombinant Human Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (ACADM)

Function

Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation (FAO), breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:21237683, PubMed:2251268, PubMed:8823175). The first step of FAO consists in the proR-proR stereospecific alpha, beta-dehydrogenation of fatty acyl-CoA thioesters using the electron transfer flavoprotein (ETF) as their physiologic electron acceptor, resulting in the formation of trans-2-enoyl-CoA ((2E)-enoyl-CoA) (PubMed:2251268). ETF is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:15159392, PubMed:25416781). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase has preference for fatty acyl-CoAs with saturated 6 to 12 carbons long primary chains, making it but can also catalyze longer chains such as C14 and C16 (PubMed:1970566, PubMed:21237683, PubMed:2251268, PubMed:8823175)

Subcellular Location

Mitochondrion matrix

Disease Association

Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) : An inborn error of mitochondrial fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often resulting in death in infancy. [The disease is caused by variants affecting the gene represented in this entry]

Tissue Specificity

Expressed ubiquitously with highest levels in heart and muscle

Subunit

Homotetramer (PubMed:8823176, Ref.24). Interacts with the heterodimeric electron transfer flavoprotein ETF

Pathway

Lipid metabolism; mitochondrial fatty acid beta-oxidation

• Kelly D.P. et al. Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. — Proc. Natl. Acad. Sci. U.S.A. (1987)
• Zhang Z.F. et al. Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene. — Biochemistry (1992)
• Sun F. et al. Medium-chain acyl-CoA dehydrogenase. (MAR-)
• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Gregory S.G. et al. The DNA sequence and biological annotation of human chromosome 1. — Nature (2006)
• Mural R.J. et al. PubMed: CI-5GBD0VIIJ7C63 (SEP-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Lubec G. et al. PubMed: CI-2PBF0JF5JFFMO (MAR-)