Gene: [14q112/NP] nucleoside phosphorylase (purine-nucleoside phosphorylase); T cell immunodeficiency (hyperinosinicuria);
FUN | Systematic name: purine nucleoside:orthophosphate ribosyltransferase. The catalyzed reaction: purine nucleoside + orthophosphate = purine + alpha-D-ribose 1-phosphate." |
REF | LOC,CYG "Aitken, Ferguson-Smith: CCG, 22, (HGM4),
490-492, 1978 PAT,PHE,FOG,MEB "Cohen &: New Engl J Med, 295, 1449-1454, 1976 PND "De Luca &: Eur J Pediatr, 145, 51-53, 1986 LOC,CYG "Denny RM &: CCG, 22, (HGM4), 493-497, 1978 PAT,PHE,FOG,MEB "Fox, Andres: Science, 197, 1084-1086, 1977 LOC,CYG "Francke U &: Somat Cell Genet, 2, 27-40, 1976 LOC,CYG "Frecker &: Hum Genet, 45, 161-173, 1978 LOC,CYG "George DL, Francke U: Science, 194, 851-852, 1976 PAT,PHE,FOG,MEB "Giblett &: Lancet, 1, 1010-1013, 1975 LOC,CYG "Junien &: Ann Genet, 23, 86-88, 1980 PAT,PHE,FOG,MEB "Osborne &: AJHG, 32, 927-933, 1980 PAT,PHE,FOG,MEB "Osborne &: J Clin Invest, 60, 741-746, 1977 LOC,CYG "Remes &: CCG, 37, (HGM7), 568, 1984 LOC,CYG "Ricciuti, Ruddle: Nature, 241, 180-182, 1973 PAT,PHE,FOG,MEB "Rijksen &: Pediatr Res, 21, 137-141, 1987 PAT,PHE,FOG,MEB "Stoop &: New Engl J Med, 296, 651-655, 1977 PAT,PHE,FOG,MEB "Watson &: Arch Dis Child, 56, 563-565, 1981 CLO,MUT,MOP,EXP,PRO "Williams SR &: JBC, 262, 2332-2338, 1987 PAT,PHE,FOG,MEB "Wortmann &: Arthritis Rheum, 22, 524-531, 1979 |
SWI | SWISSPROT: P00491 |
KEY | nucm, repr, imm |
CLA | coding, basic |
LOC | 14 q11.2 |
MIM | MIM: 164050 |
EZN | ENZYME: 2.4.2.1 |
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