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Methylenetetrahydrofolate Reductase (MTHFR)

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5,10-Methylenetetrahydrofolate Reductase(NADPH)

Methylenetetrahydrofolate Reductase (MTHFR)
CCC H609
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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPH609Hu01 Recombinant Methylenetetrahydrofolate Reductase (MTHFR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAH609Hu01 Polyclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) WB; IHC; ICC; IP.
MAH609Hu21 Monoclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) WB; IHC; ICC; IP.
Assay Kits SEH609Hu ELISA Kit for Methylenetetrahydrofolate Reductase (MTHFR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylenetetrahydrofolate Reductase (MTHFR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) Polyclonal Antibody Customized Service Offer
Assay Kits SEH609Mu ELISA Kit for Methylenetetrahydrofolate Reductase (MTHFR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Methylenetetrahydrofolate Reductase (MTHFR) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Methylenetetrahydrofolate Reductase (MTHFR) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Methylenetetrahydrofolate Reductase (MTHFR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Methylenetetrahydrofolate Reductase (MTHFR) ELISA Kit Customized Service Offer
  1. "cDNA for human methylenetetrahydrofolate reductase."Patent number WO9533054, 07-DEC-1995
  2. "Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)."Mamm. Genome 9:652-656(1998) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification."Nat. Genet. 7:195-200(1994) [PubMed] [Europe PMC] [Abstract]
  7. ErratumNat. Genet. 7:551-551(1994) [PubMed] [Europe PMC] [Abstract]
  8. "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]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "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]
  11. "Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida."Lancet 346:1070-1071(1995) [PubMed] [Europe PMC] [Abstract]
  12. "A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase."Nat. Genet. 10:111-113(1995) [PubMed] [Europe PMC] [Abstract]
  13. "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]
  14. "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]
  15. "A methylenetetrahydrofolate reductase polymorphism and the risk of colorectal cancer."Cancer Res. 56:4862-4864(1996) [PubMed] [Europe PMC] [Abstract]
  16. "Worldwide distribution of a common methylenetetrahydrofolate reductase mutation."Am. J. Hum. Genet. 62:1258-1260(1998) [PubMed] [Europe PMC] [Abstract]
  17. "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]
  18. "Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency."Eur. J. Hum. Genet. 6:257-265(1998) [PubMed] [Europe PMC] [Abstract]
  19. "A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity."Mol. Genet. Metab. 64:169-172(1998) [PubMed] [Europe PMC] [Abstract]
  20. "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]
  21. "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]
  22. "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]
  23. "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]
  24. "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome." Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]