Gene: [01q421/FH] fumarate hydratase; fumaricaciduria;
FUN | Systematic name: (S)-malate hydro-lyase. The reaction catalyzed: (S)-malate = fumarate + H(2)O." |
EXP | Two forms of fumarate hydratase - cytosolic and mitochondrial - are known. The most likely assumption is that both forms are encoded by one gene and transcribed as a single hnRNA, which then produces two different mRNAs via the alternative splicing." |
REF | LOC,CYG "Busby N &: CCG, 16, (HGM3), 105-107, 1976 LOC,CYG "Craig &: CCG, 16, (HGM3), 118-121, 1976 LOC,CYG "Despoisses &: CCG, 37, (HGM7), 450-451, 1984 EXP "Doonan &: Int J Biochem, 16, 1193-1199, 1984 EXP "Edwards YH, Hopkinson: Ann Hum Genet, 42, 303-313, 1979a EXP "Edwards YH, Hopkinson: Ann Hum Genet, 43, 103-108, 1979b PRO,SEQ,EXP "Kinsella BT, Doonan: Biosci Rep, 6, 921-929, 1986 EXP "O'Hare, Doonan: BBA, 827, 127-134, 1985 IDN,PAT,PHE "Petrova-Benedict &: AJHG, 40, 257-266, 1987 LOC,LIN "Rocha &: CCG, 51, (HGM10), 1067, 1989 LOC,CYG "Tolley E, Craig: Biochem Genet, 13, 867-883, 1975 LOC,CYG "Van Someren H &: CCG, 13, (HGM1), 150-152, 1974a LOC,CYG "Van Someren H &: CCG, 13, 551-557, 1974b IDN,PAT,PHE "Whelan &: Clin Chim Acta, 132, 301-308, 1983 IDN,PAT,PHE "Zinn &: New Engl J Med, 315, 469-475, 1986 |
SWI | SWISSPROT: P07954 |
KEY | mito, cytr, mtbd, neu |
CLA | coding, basic |
LOC | 01 q42.1 |
MIM | MIM: 136850 |
EZN | ENZYME: 4.2.1.2 |
