Gene: [10q22/SAMS1] S-adenosylmethionine synthetase 1, alpha and beta (liver-specific); hypermethioninemia (methionine adenosyltransferase deficiency);

FAG

There are three distint isoforms of SAMS enzyme in human tissues: SAMS alpha is a tetramer of SAMS1 peptide; SAMS beta is a dimer of SAMS1 peptide; and SAMS gamma is a dimer of SAMS2 peptide (see GEM:02p112/SAMS2)."

REF

CLO,SEQ "Alvarez L &: Biochem J, 293, 481-486, 1993
MUT "Chamberlin ME &: AJHG, 60, 540-546, 1997
CLO,SEQ,GEN,LOC "Chamberlin ME &: J Clin Invest, 98, 1021-1027, 1996
CLO,SEQ "Horikawa S, Tsukada K: Biochem Int, 25, 81-90, 1991
CLO,SEQ,EXP "Sakata SF &: JBC, 268, 13978-13986, 1993
MUT "Ubagai T &: J Clin Invest, 96, 1943-1947, 1995

CLA

coding, basic

LOC

10 q22

MIM

MIM: 250850

EZN

ENZYME: 2.5.1.6

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