GeneID: 116


Common Name: MTHFR Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_013351.1 (MTHFR)
HUGO Symbol: MTHFR Full Name: methylenetetrahydrofolate reductase (NAD(P)H)
Exons: 12 Introns: 11

MTHFR is a critical metabolic enzyme in the folate cycle. Folate functions in multiple coenzyme forms in the redox processing of one-carbon unit transfer reactions. The encoded protein catalyses the reduction of 5,10-methylene tetrahydrofolate (THF) to 5-methyl THF, which is in turn demethylated to complete the folate cycle. The procedure results with one carbon being donated to the homocysteine molecule in the methionine cycle to generate methionine. Metabolites of the methionine pathway are essential for the methylation of many cellular compounds, including DNA and the allosteric inhibitor of MTHFR. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. Polymorphisms in this gene associated with avascular necrosis in sickle cell patients.

Synonyms: 5,10-methylenetetrahydrofolate reductase (NADPH)


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Publications / Origin

  1. Bailey LB, Gregory JF, Folate metabolism and requirements., J. Nutr. , 129(4), 779-82, 1999 PubMed
  2. Kutlar A, Kutlar F, Turker I, Tural C, The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease., Hemoglobin , 25(2), 213-7, 2001 PubMed
  3. Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR, Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients., Hum. Mutat. , 36(6), 611-21, 2015 PubMed
Created on 2016-04-27 14:35:46, Last reviewed on (Show full history)

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