Positive Control: Human kidney tissue lysate, human liver tissue, HepG2, SiHa, rat kidney tissue, mouse liver tissue.
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
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