Recombinant Human Methylenetetrahydrofolate reductase(MTHFR)

Code CSB-BP015158HU
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Source Baculovirus
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Code CSB-EP015158HU-B
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Source E.coli
Conjugate Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
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Code CSB-MP015158HU
Size Pls inquire other sizes
Source Mammalian cell
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Product Details

Purity >85% (SDS-PAGE)
Target Names MTHFR
Uniprot No. P42898
Alternative Names 5 10 methylenetetrahydrofolate reductase (NADPH); 5 10 methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase (NAD(P)H); Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase intermediate form; MTHFR; MTHR_HUMAN
Species Homo sapiens (Human)
Expression Region 1-656
Protein Length Full length protein
Tag Info The following tags are available.
N-terminal His-tagged
The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
Form Lyophilized powder
Buffer before Lyophilization Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4? for up to one week.
Datasheet Please contact us to get it.

Target Data

Function Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.
Gene References into Functions
  1. The subjects with 677CC/1298AA genotype were only 3.05%. We were not found triple 677CT/1298CC and quadruple 677TT/1298CC mutation suggesting decreased viability of embryos with increased numbers of mutant alleles. PMID: 30061759
  2. The polymorphism of MTHFR C677T/A1298C may not be an important indicator for the accurate detection of side effects of chemotherapy after using methotrexate. PMID: 30024839
  3. We found a significant inverse correlation between MTHFR methylation levels and perceived stress scores, which remained significant after being adjusted for age, sex, and depressive symptomatology. This is the first study that reports an association between perceived stress and MTHFR methylation levels. PMID: 29595559
  4. No significant difference in FVL genotype between patients and controls was observed, whereas high frequencies of PRT G20210A, MTHFR C677T and MTHFR A1298C mutations in the Hb S patients PMID: 30200836
  5. MTHFR C677T genotyping may be useful for predicting methotrexate toxicity PMID: 29911750
  6. High frequency of MTHFR C677T polymorphism found in arterial thrombosis patient group suggests that this polymorphism might increase the risk of arterial thrombosis in Georgian patients. PMID: 29439641
  7. The frequency of MTHFR 677TT genotype may be correlated with the morbility of deep venous thrombosis. PMID: 30303041
  8. Our 2.5 A resolution crystal structure of human MTHFR reveals a unique architecture, appending the well-conserved catalytic TIM-barrel to a eukaryote-only SAM-binding domain. The latter domain of novel fold provides the predominant interface for MTHFR homo-dimerization, positioning the N-terminal serine-rich phosphorylation region near the C-terminal SAM-binding domain. PMID: 29891918
  9. Meta-analysis shows that air pollution level is an environmental factor interacting with increased MTHFR C677T polymorphisms, impacting the susceptibility to hypertensive disorders in pregnancy. PMID: 29438331
  10. Our findings indicate that the MTHFR gene polymorphism might play a role in the etiology of patients with recurrent miscarriage (RM) or repeated implantation failure (RIF). No adverse effects of different MTHFR haplotypes on embryo development were detected. Further studies on the biological role are needed to better understand the susceptibility to pregnancy complications PMID: 29785531
  11. The meta-analysis suggested that the T allele of the rs1801133 polymorphism of MTHFR is a risk factor for coronary artery disease. PMID: 30115070
  12. MTHFR C677T polymorphisms were significantly associated with recurrent pregnancy loss (RPL) in Bosnian women... PMID: 29703881
  13. The 1298A>C polymorphism in the MTHFR gene is not a risk factor for ischemic stroke in pediatric patients. (Meta-analysis) PMID: 29396624
  14. MTHFR SNPs are associated with bone turnover level in Chinese pregnant women. Homocysteine, osteocalcin and lead contents in plasma are associated with the MTHFR gene A1298C polymorphism. PMID: 30128868
  15. The results suggest that G1793A substitution might be a protective genetic factor against male infertility. PMID: 28270024
  16. MTHFR 677 T may play a significant role in regard to the risk of preterm delivery, especially in the Asian population. PMID: 29315997
  17. The MTHFR 677TT genotype is an independent risk factor for hyperhomocysteinemia in Tunisian rheumatoid arthritis patients. PMID: 29796841
  18. Findings provide evidence for a relationship between two genes-three mutations-of the cardiovascular disease (CVD genes panel and recurrent pregnancy loss (RPL). These genotypes include MTHFR C677T homozygosity, MTHFR A1298C homozygosity, compound heterozygosity of the two MTHFR gene mutations. PMID: 29974397
  19. Study indicated that MTHFR rs1801133, FGF5 rs16998073 and CSK rs1378942 were associated with increased the risk of obesity in the Chinese children. PMID: 30217759
  20. Findings showed lower MTHFR mRNA expression in preeclampsia (PE) women. The MTHFR rs1537514C>G polymorphism was associated with lower PE risk and MTHFR mRNA expression. Lower expression of MTHFR mRNA was observed in women with hypermethylated promoter. PMID: 28722783
  21. The interaction of the MTHFR, GSTT1 and hypertension may constitute a predictive model of risk for early onset ischemic heart disease in the population of Yucatan, Mexico PMID: 29395491
  22. This study indicates that MTHFR gene polymorphisms have effect on systemic inflammation. PMID: 29396861
  23. The results of the present study demonstrated that the frequency of MTHFR C677T (67%) and A1298C (77%) polymorphisms is dramatically high among deep vein thrombosis patients in Central Iranian populations. PMID: 29855758
  24. Inheritance of variant alleles of A1298C and C677T polymorphisms of MTHFR may boost the risk of NHL. Presence of the variant (T) allele of C677T polymorphism was significantly associated with non-Hodgkin lymphoma risk, and the risk seemed to be more pronounced when at least one variant allele was present in each polymorphic site. PMID: 28430351
  25. Findings suggested no association between MTHFR gene polymorphisms and susceptibility to hemorrhagic strokes in Moroccan patients. Further investigations should be conducted to elucidate the roles of other gene variants in the pathogenesis of this condition. PMID: 29555401
  26. study describes 3 cases of severe methotrexate myelopathy associated with the MTHFR C677T polymorphism PMID: 28062724
  27. MTHFR 1298 A>C polymorphism and, altered homocysteine and vitamin B12 levels might play a vital role in the precipitation of vitiligo. PMID: 29395581
  28. Significant association between MTHFR C677T polymorphism and number of losses in couples with unexplained recurrent pregnancy loss. PMID: 29622028
  29. The MTHFR gene C677T C/T+T/T genotypes and T allele increases the risk of Large-artery atherosclerosis and Small-artery occlusion subtypes of ischemic stroke. PMID: 29678854
  30. Suggest that MTHFR 677 variant confers risk for diabetic neuropathy among Iranian patients with type 2 diabetes. PMID: 29222982
  31. that in MTHFR polymorphisms, the prevalence of 677CT genotype and T allele in C667T SNP influences susceptibility to migraine with aura but not to without aura PMID: 29427165
  32. MTHFR SNPs are associated with susceptibility to osteoporosis and osteoporotic vertebral compression fractures in postmenopausal women. PMID: 29534533
  33. Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure. PMID: 29398535
  34. Serum folate and total homocysteine levels are influenced by folate intake and genetic polymorphisms in the MTHFR gene, such as C677T. (Review) PMID: 28598562
  35. MTHFR polymorphism is associated with breast cancer susceptibility. PMID: 29544444
  36. T-allele of genetic polymorphism MTHFR677C > T in the population of European Russia may increase the risk of developing schizophrenia and its unfavorable prognosis. PMID: 29202425
  37. This study demonstrated that MTHFR polymorphism was associated with hepatocellular carcinoma (HCC) occurrence and post-transplant recurrence PMID: 29185200
  38. The MTHFR C667T polymorphism is not predictive for toxicity in methotrexate-induced toxicity in pediatric osteosarcoma patients. PMID: 28592186
  39. Data suggest that C-reactive-protein (CRP) concentration is weakly associated with global DNA methylation level, and this association was more clearly in individuals with the minor allele of the 5,10-methylenetetrahydrofolate reductase (MTHFR)missense SNP rs1801133 PMID: 29439678
  40. The results of the meta-analysis suggested that MTHFR C677T polymorphism was associated with colorectal cancer susceptibility, especially in Asian population. PMID: 29089462
  41. Genotypes of transcobalamin 2 (TCN2) rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 were examined in 201 children with Autism Spectrum Disorder and 200 healthy controls from the Han Chinese population. Our results showed no association of all examined SNPs with childhood ASD and its severity. PMID: 29348398
  42. The MTHFR gene polymorphism could be an important genetic determinant of baseline DBP levels in Chinese essential hypertensive patients. PMID: 29436860
  43. compared with wild-type genotype CC, patients with CT/TT genotypes had higher incidence of leukopenia, neutropenia, nausea, and fatigue among the non-squamous Non-Small Cell Lung Cancer patients. Therefore, MTHFR C677T polymorphism could be a predictive factor for leukopenia, neutropenia, nausea, and fatigue in non-squamous Non-Small Cell Lung Cancer patients receiving single-agent PEM treatment PMID: 29186089
  44. The risk factors noted for congenital heart disease in children were presence of MTHFR C677-->T among children and their mothers and MTRR A66-->G among mothers. PMID: 28876333
  45. findings suggest that the T-allele-carrying MTHFR C677T genotype or haplotype may reduce the risk of PMODs PMID: 29970526
  46. Our study did not confirm an association between the MTHFR C677T gene polymorphism and the development of Metabolic Syndrome in polycystic ovary syndrome. PMID: 27321094
  47. Methylene tetrahydrofolate reductase (MTHFR) C677T, 5-methyltetrahydrofolate homocysteine methyltransferase (MTR) A2756G and 5- methyltetrahydrofolate homocysteine methyltransferase reductase (MTRR) A66G were shown to be positively associatiated with homocysteine, while nonvegetarian diet, serine hydroxymethyltransferase 1 (SHMT1) C1420T and TYMS 5'-UTR 28 bp tandem repeat exhibited negative association with homocysteine. PMID: 29321350
  48. MTHFR 677 gene polymorphism may be a risk factor for the development of the lichen planus, and to predispose these patients to higher risk of cardiovascular disease. PMID: 28463405
  49. Treatment with low-dose aspirin, enoxaparin and folic acid was the most effective therapy in women with recurrent miscarriages who carried a C677T MTHFR mutation. PMID: 28703660
  50. In ALL and NHL patients treated with methotrexate, treatment toxicities and outcome were evaluated. Multivariate analysis showed that DHFR-1610G/T (OR=0.107, p=0.018) and MTHFR677T alleles (OR=0.12, p=0.026) had a strong protective effect against hematologic toxicity, while DHFR-1610CC genotype increased this toxicity (OR=9, p=0.045). PMID: 28887233
  51. we were not able to confirm the association between the polymorphisms of f5, f2, and mthfr and pregnancy loss in Bosnian women PMID: 28488549
  52. Northeastern Mexican women in this study showed no association between MTFHR C667T SNP and the risk of breast cancer (BC). It seems that the contribution of this polymorphism to BC in Mexico varies depending on various factors, both genetic and environmental. PMID: 29190865
  53. Our meta-analysis suggests that MTHFR C677T polymorphism may be associated with increased Parkinson's disease risk in Caucasians and MTHFR A1298C polymorphism may also increase susceptibility to Parkinson's disease PMID: 29097250
  54. Data indicate that the rs3737966 and rs35134728 polymorphisms in methylenetetrahydrofolate reductase (MTHFR) were associated with serum methotrexate (MTX) concentrations, and that miRNAs might be involved in the post-transcriptional regulation of MTHFR. PMID: 28990296
  55. Results of this study showed that the MTRR rs1801394 alone or together with the MTHFR rs1801133 is not a risk factor for colorectal cancer in Iranian population. PMID: 28691890
  56. There was evidence suggestive of gene-gene joint-effects between MTHFR-TGFA for nsCP but not for nsCL+/-P. PMID: 27996298
  57. determination of deleterious SNPs in human MTHFR gene PMID: 29524840
  58. Heterozygous or homozygous MTHFR variants, especially a compound mutation, are associated with increased risk of venous thromboembolism (VTE). Hyperhomocysteinemia does not correlate with MTHFR polymorphisms or VTE risk. PMID: 29212064
  59. The MTHFR polymorphism rs142884651 was significantly associated with a decreased risk of ischemic stroke compared with the wild-type GA genotype and AA genotype. PMID: 29669328
  60. SNPs in folate pathway genes MTHFR/ MTR/ACE and hyperhomocysteinemia have roles in risk of coronary artery disease. PMID: 28514598
  61. Study investigates the possible association between the 2572C>A (rs4846049) and 4869C>G (rs1537514) polymorphisms in the 3'-UTR region of MTHFR gene and the risk of Preeclampsia (PE). Results found that the CG genotype of MTHFR 4869C>G polymorphism was associated with a lower risk of PE. No association was found between MTHFR 2572C>A polymorphism and PE. PMID: 28657672
  62. The MTHFR C677T polymorphism is associated with a significant increased risk in congenital heart disease in the fetal population. Moreover, an increased risk in the CC genotype of MTHFR A1298C polymorphism was observed, but the protective role of the 1298C allele needs further study. PMID: 29554656
  63. Methylenetetrahydrofolate reductase gene C677T and A1298C polymorphisms are not associated with idiopathic recurrent pregnancy loss in Korean women. PMID: 29115087
  64. The results indicate that TS 3 -UTR 6-bp insertion and MTHFR 677T and 1298C alleles increase 5-flourouracil resistance in colorectal cancer cells. PMID: 29373881
  65. This study did not find a statistically significant relationship between MTHFR C677T polymorphism and cardiac syndrome X. PMID: 28481466
  66. the associations of the MTHFR C677T polymorphism with breast and ovarian cancers were assessed as having strong epidemiological credibility in a Chinese population. PMID: 27888505
  67. Association between the MTHFR-C677T isoform and sperm DNA fragmentation and sperm nucleus decondensation index in patients with male infertility. PMID: 28842818
  68. a vital role of PLK1-dependent phosphorylation of MTHFR in replication via histone methylation, and implicate folate metabolism with glioma, is reported. PMID: 28820331
  69. There did not appear to be strong effects of maternal micronutrient intake on the role of maternal genetic polymorphisms in MTHFR C677T and A1298C and the risk of myelomeningocele among offspring. PMID: 27384413
  70. Studied the association between Methylenetetrahydrofolate reductase (MTHFR) gene variants and Familial Mediterranean fever (FMF) in a Turkish population. PMID: 28543752
  71. There is a meager significant association between MTHFR C677T polymorphism and depression risk. PMID: 28968218
  72. no correlation was found between the ACE and MTHFR polymorphisms in the development of T2DM. PMID: 29694640
  73. results indicate that the MTHFR C677T polymorphism may predict antipsychotic-induced weight gain. PMID: 27932499
  74. Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with Pseudoexfoliation syndrome (rs1801131; p = 0.549, rs1801133; p = 0.408). PMID: 28299500
  75. In this study we have showed, for the first time in the West Algerian population, that the MTHFR A1298C (rs1801131) polymorphism can be associated with rheumatoid arthritis. PMID: 26922200
  76. In northern India, the homozygous mutant T allele appeared to have significantly higher risk of OSCC especially in late stages and therefore supporting in OSCC susceptibility and its progression. PMID: 27774577
  77. Our findings indicate that women with homozygous genotype for (C677T and A1298C) either alone or compound heterozygous genotypes have a high risk of pregnancy loss in Syrian women. PMID: 28814189
  78. Analysis of the allelic frequency distribution showed that the variant T allele of MTHFR rs1801133 conferred a lower CRC susceptibility than did the wild-type C allele. PMID: 29599316
  79. Although further studies are needed, our data suggest an important role of the MTHFR gene variants in the fine-tuning regulation of one-carbon metabolism in the brain. PMID: 28871711
  80. MTHFR A1298C polymorphism was found to be a risk factor for schizophrenia and might have played a significant role in the pathogenesis of schizophrenia. PMID: 28862175
  81. MTHFR c.677T was a protective factor of prostate cancer risk in ethnic Han Chinese males by inducing DNA damage and cell apoptosis. PMID: 27819322
  82. results suggest that epigenetic silencing (hypermethylation) of MTHFR could result in an elevated risk of male infertility PMID: 27596009
  83. FVL G1691A and PT G20210A as well as MTHFR C677T and PAI-1 4G allele were significantly associated. PMID: 27001121
  84. In either maternal or paternal group, the MTHFR 677C>T polymorphism was independently related to fetal non-VSD, while the MTRR 66A>G polymorphism was independently related to fetal VSD. PMID: 28758112
  85. MTHFR C677T Polymorphism is associated with distant metastasis in Breast Cancer. PMID: 28330681
  86. Review/Meta-analysis: no significant effect of MTHFR gene A1298C polymorphism on methotrexate outcome in rheumatoid arthritis patients. PMID: 28544525
  87. miR-516a-5p may regulate MTHFR, MMP-2, and TIMP-1 expressions in vascular smooth muscle cells, possibly promoting the disruption of homocysteine metabolism and proteolytic degradation of elastin for abdominal aortic aneurysm formation. PMID: 28288890
  88. This study confirmed that the MTHFR 1298A>C polymorphism is associated with the risk of intraventricular hemorrhage. PMID: 28578513
  89. HPV DNA typing identified 29 papillomavirus infections, and the MTHFR C677T TT genotype was significantly associated with an increased risk of familial breast cancer in the Iranian population. PMID: 28537481
  90. 3-way interaction of MTHFR C677T, COMT Val158Met and childhood adversity increases risk of schizophrenia. PMID: 28556887
  91. Air pollution played a role in the increased polymorphisms of MTHFR 677 genotypes in childhood leukemia (Meta-Analysis) PMID: 27966457
  92. The MTHFR 677T allele alone or in combination with the MTHFR 1298C allele significantly increases the risk of development of acute lymphoblastic leukemia in Polish population under 18 years of age PMID: 29390492
  93. The function SNP rs915014 in the 3'UTR of MTHFR AG and GG genotypes were associated with increased risk of atherosclerosis compared with the GG genotype. The miR-2861 is able to bind to MTHFR with G allele and down-regulate MTHFR expression resulting in an increased level of serum tHcy and a poor atherosclerosis outcome. PMID: 29444504
  94. there was a significant association between the MTHFR gene and cognitive impairment in patients with schizophrenia, especially in immediate memory and attention. PMID: 29188628
  95. Hypertension and adverse prognosis were associated with MTHFR TT genotype were more frequently observed in the non-indigenous ethnic groups of Mountain Shoria (Siberia). PMID: 29039833
  96. MTHFR 677C>T polymorphism was identified as an independent predictive marker for methotrexate-associated hematologic toxicity PMID: 27781293
  97. We found that rs1801133 and rs1801131 within MTHFR gene, their interaction, and haplotype containing the rs1801133- T and rs1801131- C alleles were all associated with pulmonary embolism risk. PMID: 28500484
  98. The results of this study provide an insight into the network-specific genetic influence of the MTHFR C677T functional polymorphism in the early stages of Alzheimer's disease. PMID: 28342207
  99. the routine screening of patients with NAIS for F5 G1691A, F2 G20210A and MTHFR C677T gene mutations might not be justified, and additional prothrombotic mechanisms should be considered. PMID: 27619728
  100. Case-control study found that MTHFR 677T allele represents a weak genetic risk factor for LOAD in an Italian population in APOEvarepsilon4 and non-APOEvarepsilon4 carriers. PMID: 28211809

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Involvement in disease Methylenetetrahydrofolate reductase deficiency (MTHFRD); Ischemic stroke (ISCHSTR); Neural tube defects, folate-sensitive (NTDFS); Schizophrenia (SCZD)
Protein Families Methylenetetrahydrofolate reductase family
Database Links

HGNC: 7436

OMIM: 181500

KEGG: hsa:4524

STRING: 9606.ENSP00000365775

UniGene: Hs.214142

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