Gene: [0Xp211/OTC] ornithine carbamoyltransferase; hyperammonemia I (ornithine transcarbamylase deficiency);
GEN | The gene length is 73 kb. |
FUN | Systematic name: carbamoylphosphate:L-ornithine carbamoyltransferase." |
REF | HIS,FOG,PHE "Bruton &:
Brain, 93, 423-434, 1970 HIS,FOG,PHE "Campbell &: New Engl J Med, 288, 1-6, 1973 PND,POL "Fox JE &: AJHG, 38, 841-847, 1986a PND,POL "Fox JE &: New Engl J Med, 315, 1205-1208, 1986b HIS,FOG,PHE "Harding &: Eur J Pediatr, 141, 215-220, 1984 GEN,PEP,SEQ "Hata A &: J Biochem, 103, 302-308, 1988 PRO,SEQ "Hata A &: J Biochem, 100, 717-725, 1986 PND,POL "Holzgreve, Golbus: AJHG, 36, 320-328, 1984 GEN,PEP,SEQ "Horwich AL &: Cell, 44, 451-459, 1986 PRO,SEQ "Horwich AL &: Science, 224, 1068-1074, 1984 CAG,MUT "Kodama &: J Inherit Metab Dis, 9, 175-185, 1986 HIS,FOG,PHE "Kornfeld &: Acta Neuropathol, 65, 261-264, 1985 LOC "Lindgren V &: Science, 226, 698-700, 1984 CAG,MUT "Maddalena &: New Engl J Med, 319, N15, 999-1003, 1988 PND,POL "Nussbaum RL &: AJHG, 38, 149-158, 1986 PND,POL "Old JM &: Lancet, 1, (12 Jan), 73-75, 1985 PND,POL "Pembrey ME &: J Med Genet, 22, 462-465, 1985 PND,POL "Rodeck &: Lancet, 2, 297-300, 1982 PND,POL "Rosen &: Nature, 313, 815-817, 1985 PND,POL "Schwartz M &: Clin Genet, 29, 449-452, 1986 HIS,FOG,PHE "Short &: New Engl J Med, 288, 7-12, 1973 HIS,FOG,PHE "Wettke-Schafer, Kantner: Hum Genet, 64, 1-23, 1983 |
SWI | SWISSPROT: P00480 |
KEY | mito, mtbd, neu, xen |
CLA | coding, basic |
LOC | 0X p21.1 |
MIM | MIM: 311250 |
EZN | ENZYME: 2.1.3.3 |
