Gene: [10q22/SAMS1] S-adenosylmethionine synthetase 1, alpha and beta (liver-specific); hypermethioninemia (methionine adenosyltransferase deficiency);
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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)." |
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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 |
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CLA |
coding, basic |
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LOC |
10 q22 |
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MIM |
MIM: 250850 |
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EZN |
ENZYME: 2.5.1.6 |
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