Recombinant Human Betaine--homocysteine S-methyltransferase 1 (BHMT)

1. Our study suggested markers in BHMT/BHMT2 and DMGDH might affect the risk of NSCL/P through pairwise interaction. PMID: 29356306
2. BHMT (rs3733890) polymorphism showed no association with ALL. Hence this investigation needs further evaluation in larger sample size and effect of other SNPs, CNVs and miRNA's is required to elucidate the role of BHMT gene in ALL development. PMID: 28582843
3. In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342). PMID: 27677362
4. It was concluded that during pregnancy, the BHMT pathway is affected by folate status and by the variant BHMT c.716A allele. PMID: 27735840
5. low BHMT expression is correlated with aggressive malignant phenotype of HCC. Our data indicate that BHMT may serve as a novel prognostic marker for HCC. PMID: 26592251
6. The faster evolutionary rate of BHMT2 overall suggests that selective constraints were reduced relative to BHMT. PMID: 26213999
7. Multiple SNPs in BHMT and BHMT2 were identified to be associated with the occurrence of infant obstructive heart defects and interaction effects with maternal use of folic acid supplements. PMID: 25846410
8. Data suggest BHMT is activated by binding of potassium ions; role of potassium ions in BHMT appears to be structural; potassium ions facilitate specific binding of substrate homocysteine (rather than substrate betaine) to active site of the enzyme. PMID: 24895213
9. Study suggests BHMT holds considerable potential as a blood biomarker for acute liver injury. PMID: 25144858
10. Women harboring the single nucleotide polymorphism BHMT 742G>A have a decreased risk of a Down Syndrome pregnancy. PMID: 23645037
11. Known common single-nucleotide polymorphisms in MTRR and BHMT genes may not be significant risk factors for cororonary artery disease. PMID: 22339686
12. Our study suggests that the polymorphism BHMT G742A may modulate the Down syndrome risk in Brazilian mothers. PMID: 22339736
13. The BHMT 742GA or AA genotypes associated with tobacco consumption (P = 0.016) increase the risk for head and neck squamous cell carcinoma. PMID: 21630102
14. A transcription variant of exon 4 of betaine-homocysteine methyltransferase (BHMT) produces a loss of function of BHMT in human hepatocarcinoma PMID: 22138536
15. Three SNPs (rs41272270, rs16876512, and rs6875201), located 28kb upstream, in the 5'-UTR and in intron 1 of BHMT, respectively, were significantly correlated with both BHMT activity and protein levels. PMID: 21093336
16. No significant level of association was found with cleft lip with or without cleft palate and BHMT variants. PMID: 21564312
17. Results might suggest the protective role of the BHMT 239Gln variant in cervical cancer incidence. PMID: 21349258
18. This suggests that polymorphism rs3797546 in the BHMT gene may confer genetic risk of NSCL/P in a recessive manner. PMID: 21565678
19. gene-gene interaction analysis revealed significant epistatic interaction of BHMT2 (rs673752), PEMT (rs12325817), and PCYT1A (rs712012) with maternal NCL/P susceptibility. PMID: 20662904
20. Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) PMID: 19948975
21. mutagenesis of the zinc-binding motif reveals that Gly 214 is essential PMID: 11883905
22. BHMT is a tetramer and its ability to methylate homocysteine is not affected by S-Adenosylmethionine (SAMe) PMID: 12071701
23. X-ray structures of human BHMT in its oxidized (Zn-free) and reduced (Zn-replete) forms, the latter in complex with the bisubstrate analog, S(delta-carboxybutyl)-L-homocysteine, were determined at resolutions of 2.15 A and 2.05 A PMID: 12220488
24. Study using intrinsic tryptophan fluorescence properties of BHMT demonstrates clearly that BHMT catalysis follows an ordered bi-bi mechanism and that betaine binding affinity is dependent on formation of the BHMT-homocysteine complex. PMID: 15122900
25. S-adenosylmethionine and methylthioadenosine downregulaate BHMT expression in HepG2 cells. PMID: 16953798
26. association between the homozygous mutant form of BHMT (742G-->A) polymorphism and increased risk for placental abruption. PMID: 17376725
27. The BHMT/betaine system directly protects hepatocytes from homocysteine-induced injury but not tunicamycin-induced injury, including an endoplasmic reticulum stress response, lipid accumulation, and cell death. PMID: 17705221
28. Experiments using the glutamate-cysteine ligase modifier subunit knockout mice Gclm(-/-), which are severely impaired in glutathione synthesis, show that BHMT activity is reduced about 75% in Gclm(-/-) compared to Gclm(+/+) mice. PMID: 18262489
29. Common genetic variation in BHMT and BHMT2 and functionally characterized BHMT SNPs. PMID: 18457970
30. betaine-homocysteine methyltransferase (BHMT) transgenic mice are resistant to alcohol or high methionine low folate diet -induced hyperhomocysteinemia and liver steatosis PMID: 18498552
31. The BHMT 742 A allele was associated with resuced all-cause mortality. PMID: 18708404
32. betaine-homocysteine methyltransferase gene (BHMT) rs3733890 polymorphism was associated with reduced breast cancer-specific mortality (hazard ratio, 0.64; 95% confidence interval, 0.42-0.97) PMID: 19635752

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HGNC: 1047

OMIM: 602888

KEGG: hsa:635

STRING: 9606.ENSP00000274353

UniGene: Hs.80756