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

鸯铗痂蝈 蜞赕:

  • 象痂眄箨脲铉桎纛耵铕桦噻 (2.4.2.1)
  • 膛依廖巳翘 陀仕盼胰奈
  • 嫌腥臀论 陀仕盼胰嫩: 膛依廖巳翘
  • 门哇 嫌腥臀挛梦 瘟膛屠
  • 缅 矬痂眄箨脲铉桎纛耵铕桦噻 (NP)