Methylene tetrahydrofolate reductase
| Methylene tetrahydrofolate reductase | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 656 amino acids | |
| Secondary to quaternary structure | Homodimer | |
| Cofactor | FAD | |
| Identifier | ||
| Gene name | MTHFR | |
| External IDs | ||
| Enzyme classification | ||
| EC, category | 1.5.1.20 , oxidoreductase | |
| Response type | Transfer of a reduction equivalent | |
| Substrate | 5,10-methylene FH 4 + NAD (P) + | |
| Products | 5-methyl- FH 4 + NAD (P) H | |
| Occurrence | ||
| Homology family | MTHFR | |
| Parent taxon | Vertebrates | |
| Orthologue | ||
| human | House mouse | |
| Entrez | 4524 | 17769 |
| Ensemble | ENSG00000177000 | ENSMUSG00000029009 |
| UniProt | P42898 | Q9WU20 |
| Refseq (mRNA) | NM_005957 | NM_001161798 |
| Refseq (protein) | NP_005948 | NP_001155270 |
| Gene locus | Chr 1: 11.79 - 11.81 Mb | Chr 4: 148.04 - 148.06 Mb |
| PubMed search | 4524 |
17769
|
Methylene tetrahydrofolate reductase (MTHFR) is the enzyme in vertebrates that uses NAD (P) H to reduce 5,10-methylene FH 4 to 5-methyl- FH 4 . Since the methylating agent 5-methyl-FH 4 is made available in this way, MTHFR is indispensable in many metabolic pathways , including the breakdown of the harmful homocysteine to methionine and the formation of methane in bacteria .
The coding gene MTHFR is the man in many tissue types expressed and then given the protein into the blood. Variants of and mutations in the MTHFR gene can lead to increased, but above all to reduced, production and effectiveness of the MTHFR enzyme. Enzyme deficiency in pregnant women can be the cause of neural tube malformations such as spina bifida in newborns; furthermore, MTHFR deficiency can lead to homocystinuria and increase the risk of stroke or colon cancer .
Catalyzed reaction
+ NADPH + H + ⇒ 
+ NADP +
5,10-methylene-FH 4 is reduced to 5-methyl-FH 4 . The enzyme activity is allosterically regulated by S-adenosylmethionine .
Web links
- reactome.org: Metabolism of folate and pterines
- Enzyme - 1.5.1.20 in the Kyoto Encyclopedia of Genes and Genomes
Individual evidence
- ↑ a b c UniProt P42898
- ↑ Methylation of Corrinoid Reaction - R02289 in the Kyoto Encyclopedia of Genes and Genomes .
- ↑ M. Sawabe, T. Arai, A. Araki et al .: Smoking confers a MTHFR 677C> T genotype-dependent risk for systemic atherosclerosis: results from a large number of elderly autopsy cases that died in a community-based general geriatric hospital . In: J. Atheroscler. Thromb. tape 16 , no. 2 , April 2009, p. 91-104 , PMID 19403988 .
- ↑ C. Antoniades, C. Shirodaria, P. Leeson et al .: MTHFR 677 C> T Polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis . In: Circulation . tape 119 , no. May 18 , 2009, p. 2507-2515 , doi : 10.1161 / CIRCULATIONAHA.108.808675 , PMID 19398669 .
- ↑ YI Kim: Methylenetetrahydrofolate reductase polymorphisms, folate, and cancer risk: a paradigm of gene-nutrient interactions in carcinogenesis . In: Nutr. Rev. Band 58 , no. 7 , July 2000, p. 205-209 , PMID 10941256 .
- ↑ YI Kim: Role of the MTHFR polymorphisms in cancer risk modification and treatment . In: Future Oncol . tape 5 , no. 4 , May 2009, p. 523-542 , doi : 10.2217 / fon.09.26 , PMID 19450180 .