5,10-methylenetetrahydrofolate reductase (MTHFR)
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Function
- catalyzes formation of N5-methyltetrahydrofolate from 5,10-methylenetetrahydrofolate
- in connection with methionine synthase, 5,10 methylenetetrahydrofolate reductase regulates methionine synthesis & tetrahydrofolate generation (see trans-sulfuration pathway)
- tetrahydrofolate serves as a reservoir of methyl groups for thymine synthesis (see folate metabolism)
- allosterically regulated by S-adenosylmethionine
- one-carbon metabolism; tetrahydrofolate pathway
5-methyltetrahydrofolate + NAD+/NADP+
<-->
5,10- methylenetetrahydrofolate + NADH/NADPH
Cofactor: FAD
Structure
- homodimer
- belongs to the methylenetetrahydrofolate reductase family
Pathology
- defects in MTHFR are the cause of
- methylenetetrahydrofolate reductase deficiency
- susceptibility to ischemic stroke
- susceptibility to folate-sensitive neural tube defects
Polymorphism
- genetic variation in MTHFR influences susceptibility to
Laboratory
More general terms
Additional terms
- hyperhomocysteinemia
- methionine synthase; 5-methyltetrahydrofolate:homocysteine methyltransferase; vitamin-B12 dependent methionine synthase; tetrahydropteroyl-glutamate methyltransferase; MS (MTR)
References
- ↑ UniProt http://www.uniprot.org/uniprot/P42898.html
- ↑ Atlas of genetics & cytogenetics in oncology & haematology http://atlasgeneticsoncology.org/genes/MTHFRID41448ch1p36.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=MTHFR
- ↑ NIEHS-SNPs http://egp.gs.washington.edu/data/mthfr/
- ↑ SHMPD;The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=MTHFR
- ↑ Wikipedia; methylenetetrahydrofolate reductase entry http://en.wikipedia.org/wiki/methylenetetrahydrofolate_reductase
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2200
Database
- UniProt: http://www.uniprot.org/uniprot/P42898.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4524
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:4524
- OMIM: https://mirror.omim.org/entry/236250
- OMIM: https://mirror.omim.org/entry/601367
- OMIM: https://mirror.omim.org/entry/601634
- OMIM: https://mirror.omim.org/entry/603174
- OMIM: https://mirror.omim.org/entry/607093