Immunogen sequence: SGKPVAATMC IGPEGDLHGV PPGECAVRLV KAGASIIGVN CHFDPTISLK TVKLMKEGLE AARLKAHLMS QPLAYHTPDC NKQGFIDLPE FPFGLEPRVA TRWDIQKYAR EAYNLGVRYI GGCCGFEPYH IRAIAEELAP ERGFLPPASE KHGSWGSGLD MHTKPWVRAR ARKEYWENLR IASGRPYNPS MSKPDGWGVT KGTAELMQQK EATTEQQLKE LFEKQKFKSQ; Positive Samples: HL-60, Rat kidney; Cellular Location: Cytoplasm
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; betaine-homocysteine methyltransferase; epididymis secretory sperm binding protein Li 61p
Gene Aliases: BHMT; BHMT1; HEL-S-61p