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Gene Review:

BHMT2 - betaine--homocysteine S-methyltransferase 2

Homo sapiens

Synonyms: Betaine--homocysteine S-methyltransferase 2, S-methylmethionine--homocysteine S-methyltransferase BHMT2, SMM-hcy methyltransferase

Zhu, H. et al., Szegedi, S.S. et al., Chadwick, L.H. et al.

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Disease relevance of BHMT2

The results of these experiments suggest that variants of the BHMT/BHMT2 genes in infants do not substantially contribute to the risk of spina bifida or orofacial clefts in our study population [1].

High impact information on BHMT2

The BHMT2 transcript in humans is most abundant in adult liver and kidney and is found at reduced levels in the brain, heart, and skeletal muscle [2].
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts [1]?

Associations of BHMT2 with chemical compounds

Based on these data, it is our current hypothesis that in vivo most if not all of the SMM-dependent methylation of homocysteine occurs via BHMT-2 [3].

References

Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? Zhu, H., Curry, S., Wen, S., Wicker, N.J., Shaw, G.M., Lammer, E.J., Yang, W., Jafarov, T., Finnell, R.H. Am. J. Med. Genet. A (2005) [Pubmed]
Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Chadwick, L.H., McCandless, S.E., Silverman, G.L., Schwartz, S., Westaway, D., Nadeau, J.H. Genomics (2000) [Pubmed]
Betaine-homocysteine S-methyltransferase-2 is an S-methylmethionine-homocysteine methyltransferase. Szegedi, S.S., Castro, C.C., Koutmos, M., Garrow, T.A. J. Biol. Chem. (2008) [Pubmed]

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