Methylenetetrahydrofolate Reductase (MTHFR)

5,10-Methylenetetrahydrofolate Reductase(NADPH)

SPN	P126
HGNC	7436
MGI	106639
PubMed	16114881
RGD	1309952
UniProt	P42898
Wiki	MTHFR

Methylenetetrahydrofolate reductase (EC 1.5.1.20) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.

Sequence data from the porcine DNA were then used to screen a human liver cDNA library by PCR for isolation of a partial human cDNA, the predicted amino acid sequence of which showed strong homology to porcine MTHFR and to bacterial metF genes. The encoded 656-amino acid protein is a homodimer with a total molecular mass of 150 kD. The human and mouse MTHFR proteins share approximately 90% identity.The different sized transcripts resulted from alternate transcription start sites and polyadenylation signals.

Reference

"cDNA for human methylenetetrahydrofolate reductase."
Patent number WO9533054, 07-DEC-1995

"Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)."
Mamm. Genome 9:652-656(1998) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biological annotation of human chromosome 1."
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification."
Nat. Genet. 7:195-200(1994) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 7:551-551(1994) [PubMed] [Europe PMC] [Abstract]

"Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms."
Mamm. Genome 13:483-492(2002) [PubMed] [Europe PMC] [Abstract]

"Initial characterization of the human central proteome."
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]

"Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency."
Am. J. Hum. Genet. 56:1052-1059(1995) [PubMed] [Europe PMC] [Abstract]

"Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida."
Lancet 346:1070-1071(1995) [PubMed] [Europe PMC] [Abstract]

"A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase."
Nat. Genet. 10:111-113(1995) [PubMed] [Europe PMC] [Abstract]

"5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects."
Am. J. Med. Genet. 63:610-614(1996) [PubMed] [Europe PMC] [Abstract]

"Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR."
Am. J. Hum. Genet. 59:1268-1275(1996) [PubMed] [Europe PMC] [Abstract]

"A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer."
Cancer Res. 56:4862-4864(1996) [PubMed] [Europe PMC] [Abstract]

"Worldwide distribution of a common methylenetetrahydrofolate reductase mutation."
Am. J. Hum. Genet. 62:1258-1260(1998) [PubMed] [Europe PMC] [Abstract]

"A second mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?"
Am. J. Hum. Genet. 62:1044-1051(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency."
Eur. J. Hum. Genet. 6:257-265(1998) [PubMed] [Europe PMC] [Abstract]

"A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity."
Mol. Genet. Metab. 64:169-172(1998) [PubMed] [Europe PMC] [Abstract]

"Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects."
Am. J. Med. Genet. 84:151-157(1999) [PubMed] [Europe PMC] [Abstract]

"Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults."
Proc. Natl. Acad. Sci. U.S.A. 96:12810-12815(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria."
Hum. Mutat. 15:280-287(2000) [PubMed] [Europe PMC] [Abstract]

"Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls."
Arch. Neurol. 61:1652-1661(2004) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]