Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene.[5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine. Natural variation in this gene is common in otherwise healthy people. Although some variants have been reported to influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and other forms of dementia, colon cancer, and acute leukemia, findings from small early studies have not been reproduced. Some mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[6][7][8] Complex I deficiency with recessive spastic paraparesis has also been linked to MTHFR variants. In addition, the aberrant promoter hypermethylation of this gene is associated with male infertility and recurrent spontaneous abortion.[9][10]
^ abcGRCh38: Ensembl release 89: ENSG00000177000 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000029009 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Födinger M, Hörl WH, Sunder-Plassmann G (2000). "Molecular biology of 5,10-methylenetetrahydrofolate reductase". Journal of Nephrology. 13 (1): 20–33. PMID 10720211.
^Trimmer EE (2013). "Methylenetetrahydrofolate reductase: biochemical characterization and medical significance". Current Pharmaceutical Design. 19 (14): 2574–93. doi:10.2174/1381612811319140008. PMID 23116396.
^Cite error: The named reference Rotondo_2012 was invoked but never defined (see the help page).
^Rotondo JC, Selvatici R, Di Domenico M, Marci R, Vesce F, Tognon M, Martini F (September 2013). "Methylation loss at H19 imprinted gene correlates with methylenetetrahydrofolate reductase gene promoter hypermethylation in semen samples from infertile males". Epigenetics. 8 (9): 990–7. doi:10.4161/epi.25798. PMC 3883776. PMID 23975186.
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Methylenetetrahydrofolatereductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. Methylenetetrahydrofolate...
Methylenetetrahydrofolatereductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is...
Levomefolic acid is generated by methylenetetrahydrofolatereductase (MTHFR) from 5,10-methylenetetrahydrofolate (MTHF) and used to recycle homocysteine...
requires FMN. An enzyme involved in folate metabolism, 5,10-methylenetetrahydrofolatereductase, requires FAD to form the amino acid, methionine, from homocysteine...
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gene-environment interaction such as vulnerability caused by the C677T methylenetetrahydrofolatereductase (MTHFR) variant. Supplementing folic acid during pregnancy...
methionine synthase, a B-12 dependent enzyme in humans, and methylenetetrahydrofolatereductase. Her collaboration with geneticist Rima Rozen at McGill University...
rule, and enzymes such as aldose reductase, glucose-6-phosphate dehydrogenase, and methylenetetrahydrofolatereductase can use both coenzymes in some species...
Minjuan; Wang, Yun; Tao, Jianying; Li, Hong (2015-01-01). "Methylenetetrahydrofolatereductase polymorphisms at 3'-untranslated region are associated with...
C677T and A1298C. L. D. Botto & Q. Yang (May 2000). "5,10-Methylenetetrahydrofolatereductase gene variants and congenital anomalies: a HuGE review". American...
genes encodes the enzyme methylenetetrahydrofolatereductase (MTHFR). MTHFR is involved in reducing 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate...
hypomethylation in the fetus. The gene MTHFR codes for the enzyme methylenetetrahydrofolatereductase which is necessary for the synthesis of 5-methyl-tetrahydrofolate...
Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 (MTHFD1) is a gene located in humans on chromosome 14...
"Methylation loss at H19 imprinted gene correlates with methylenetetrahydrofolatereductase gene promoter hypermethylation in semen samples from infertile...
plasminogen activator inhibitor-1 (PAI-1), prothrombin, and methylenetetrahydrofolatereductase (MTHFR). At this point, the pathomechanism of livedoid vasculopathy...
Hill K, Hurtado AM, Hochachka PW, Devine DV (July 2003). "Methylenetetrahydrofolatereductase (MTHFR) allele frequencies in Amerindians". Annals of Human...
genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolatereductase. P Frosst, HJ Blom, R Milos, P Goyette, Christal A Sheppard...
2005). "Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolatereductase". International Journal of Developmental Neuroscience. 23...
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