Gene: [21q223/CBS] cystathionine-beta-synthase; homocystinuria (cystathionine-beta-synthase deficiency);
FUN | Systematic name: L-serine hydro-lyase (adding homocysteine). The catalyzed reaction: L-serine + L-homocysteine = = cystathionine + H(2)O. The enzyme is multifunctional: it catalyses beta-replacement reaction between L-serine, L-cysteine, cysteine thioethers or some other beta- substituted alpha-L-amino acids and a variety of mercaptans." |
REF | PAT,MEB,PHE,FOG "Abbott CA &: Am J Med Genet, 26, 959-969,
1987 LOC,CYG "Arias &: CCG, 40, (HGM8), 570, 1985 POP,MGC "Boers &: Hum Genet, 69, 164-169, 1985a POP,MGC "Boers &: New Engl J Med, 313, 709-715, 1985b HIS,PAT,PHE,FOG "Carson &: Arch Dis Child, 38, 425-436, 1963 HIS,PAT,PHE,FOG "Carson, Neill: Arch Dis Child, 37, 505-513, 1962 LOC,CYG "Chadefaux &: BBRC, 128, N1, 40-44, 1985 PAT,MEB,PHE,FOG "Fowler &: J Clin Invest, 61, 645-653, 1978 HIS,PAT,PHE,FOG "Gerritsen &: BBRC, 9, 493-496, 1962 PAT,MEB,PHE,FOG "Harker &: J Clin Invest, 58, 731-741, 1976 PAT,MEB,PHE,FOG "Kang &: J Clin Invest, 77, 1482-1486, 1986 PRO,EXP,LOC,MOL,CYG "Kraus JP &: PNAS, 83, N7, 2047-2051, 1986 IDN,PEP,FUN "Kraus JP &: JBC, 253, 6523-6528, 1978 PAT,MEB,PHE,FOG "Mudd SH &: AJHG, 37, 1-31, 1985a PAT,MEB,PHE,FOG "Mudd SH: New Engl J Med, 313, 751-753, 1985b PAT,MEB,PHE,FOG "Mudd SH &: AJHG, 33, 883-893, 1981 LOC,MOL,PRO "Munke M &: AJHG, 42, 550-559, 1988 LOC,MOL,PRO "Munke M &: CCG, 40, (HGM8), 706-707, 1985 HIS,PAT,PHE,FOG "Schimke &: JAMA, 193, 711-719, 1965 PAT,MEB,PHE,FOG "Scovby F: Acta Paediatr Scand, 321, (Suppl), 1-21, 1985 LOC,CYG "Scovby F &: CCG, 37, (HGM7), 585, 1984a LOC,CYG "Scovby F &: Hum Genet, 65, 291-294, 1984b EXP,STR "Skovby F &: AJHG, 36, 452-459, 1984c POP,MGC "Spaeth, Barber: Pediatrics, 40, 586-589, 1967 TER "Wilcken &: Metabolism, 34, 1115-1121, 1985 |
SWI | SWISSPROT: P35520 |
KEY | aac, mtbd, neu, bone, ats |
CLA | coding, basic |
LOC | 21 q22.3 |
MIM | MIM: 236200 |
EZN | ENZYME: 4.2.1.22 |
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