This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed.
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Protein Aliases: Betaine--homocysteine S-methyltransferase 1; epididymis secretory sperm binding protein Li 61p
Gene Aliases: BHMT; BHMT1; HEL-S-61p
UniProt ID: (Human) Q93088
Entrez Gene ID: (Human) 635
Molecular Function: methyltransferase