Hydroxymethylglutaryl-CoA lyase
Hydroxymethylglutaryl-CoA lyase | ||
---|---|---|
Model structure of the human HMG-CoA lyase according to PDB 2cw6 . A monomer is shown; the magnesium (II) ion it contains is shown in blue. | ||
Properties of human protein | ||
Mass / length primary structure | 298 amino acids | |
Secondary to quaternary structure | Homodimer | |
Identifier | ||
Gene name | HMGCL | |
External IDs | ||
Enzyme classification | ||
EC, category | 4.1.3.4 , lyase | |
Response type | Cleavage of a CC bond | |
Substrate | HMG-CoA | |
Products | Acetyl-CoA + acetoacetate | |
Occurrence | ||
Homology family | HMGCL-like | |
Parent taxon | Creature | |
Orthologue | ||
human | House mouse | |
Entrez | 3155 | 15356 |
Ensemble | ENSG00000117305 | ENSMUSG00000028672 |
UniProt | P35914 | P38060 |
Refseq (mRNA) | NM_000191 | NM_008254 |
Refseq (protein) | NP_000182 | NP_032280 |
Gene locus | Chr 1: 23.8 - 23.83 Mb | Chr 4: 135.95 - 135.96 Mb |
PubMed search | 3155 |
15356
|
Hydroxymethylglutaryl-CoA lyase (short: HMG-CoA lyase or HL ) is the enzyme , the cleavage of HMG-CoA into acetyl-CoA and acetoacetate catalyzed . In plants and bacteria, HMG-CoA becomes part of the mevalonate pathway to build up the isoprenoids via an HMG-CoA lyase . In the mitochondria and peroxisomes of vertebrates , HMG-CoA is part of the synthesis of the keto bodies and the breakdown of the amino acid leucine. In humans, the enzyme is localized in fibroblasts , lymphocytes and the liver . Mutations in HMGCL - gene can hereditary enzyme deficiency HMG-CoA lyase deficiency lead of with severe hypoglycemia and coma associated. HL deficiency is extremely rare outside of Saudi Arabia, Portugal, and Japan.
Catalyzed reaction
HMG-CoA is converted to acetyl-CoA and acetoacetate.
Individual evidence
- ↑ UniProt P35914
- ↑ Muroi J, Yorifuji T, Uematsu A, et al : Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency . In: Hum. Genet. . 107, No. 4, October 2000, pp. 320-6. PMID 11129331 .
- ↑ Mitchell GA, Ozand PT, Robert MF, et al : HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q . In: Am. J. Hum. Genet. . 62, No. 2, February 1998, pp. 295-300. doi : 10.1086 / 301730 . PMID 9463337 . PMC 1376904 (free full text).
- ↑ Ashmarina LI, Rusnak N, Miziorko HM, Mitchell GA: 3-Hydroxy-3-methylglutaryl-CoA lyase is present in mouse and human liver peroxisomes . In: J. Biol. Chem. . 269, No. 50, December 1994, pp. 31929-32. PMID 7527399 .
Web links
- Gopinathrao / reactome.org: HMG CoA ⇒ acetoacetic acid + acetyl CoA