ACADM

from Wikipedia, the free encyclopedia
medium chain specific acyl coenzyme A dehydrogenase
other names
  • Acyl Coenzyme A Dehydrogenase, C-4 to C-12 straight chain
  • MCAD

Existing structural data : 1EGC , 1EGD , 1EGE , 1T9G , 2A1T , 4P13

Properties of human protein
Mass / length primary structure 46,588 Daltons / 421 amino acids (Isoform1)

47,020 Daltons / 425 amino acids (Isoform2)

Cofactor FAD
Isoforms 2
Identifier
Gene name ACADM
External IDs
Enzyme classification
EC, category 1.3.8.7
Orthologue
human House mouse
Entrez 34 11364
Ensemble ENSG00000117054 ENSMUSG00000062908
UniProt P11310 P45952
Refseq (mRNA) NM_000016 NM_007382
Refseq (protein) NP_000007 NP_031408
Gene locus Chr 1: 75.72 - 75.79 Mb Chr 3: 153.92 - 153.94 Mb
PubMed search 34 11364

The middle-chain-specific acyl-coenzyme A dehydrogenase is an enzyme that is encoded by the ACADM gene . The enzyme catalyzes the initial step of mitochondrial β-oxidation . It is specific for acyl chains of length 4 to 16. Mutations in the ACADM gene lead to failures in the enzyme, which in turn leads to dysfunction of the liver, hypoglycaemia with sobriety and encephalopathy . This can lead to death in childhood.

In addition to this yet, acyl-coenzyme A dehydrogenase for short chains (there ACADS ) for long ( ACADL ) or for very long chains ( ACADVL specific).

Individual evidence

  1. ↑ UniProt P11310
  2. ↑ ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain (human)
  3. ^ "Acyl-CoA dehydrogenase, long chain".  In: Online Mendelian Inheritance in Man . (English)