Gene: [0Xq261/HPRT1] hypoxanthine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); hypoxanthine guanine phosphoribosyltransferase 1 (deficiency: Lesch-Nyhan syndrome); Lesch-Nyhan syndrome (HPRT deficiency);


FUN

Systematic name: IMP:pyrophosphate phosphoribosyltransferase. Catalyzes reaction: IMP + pyrophosphate = hypoxanthine + 5-phospho-alpha-D-ribose 1-diphosphate."

FAG

Another HPRT gene is reserved: GEM:00.0/HPRT2.

PSG

GEM:03^/HPRTP1, GEM:05p1/HPRTP2, GEM:11q/HPRTP3, GEM:11q/HPRTP4.

REF

MUT,PAT "Davidson BL &: AJHG, 48, N5, 951-958, 1991
CLO,SEQ,STR "Edwards A &: Genomics, 6, 593-608, 1990
CLO,SEQ,MUT "Gibbs RA &: PNAS, 86, 1919-1923, 1989
MUT,PAT "Gibbs RA &: Science, 236, 303-305, 1987
CLO,SEQ "Jolly DJ &: PNAS, 80, 477-481, 1983
CLO,PRO "Jolly DJ &: PNAS, 79, 5038-5041, 1982
GEN,EAG "Kim SH &: NAR, 14, N7, 3103-3118, 1986
LOC "Pai GS &: PNAS, 77, 2810-2813, 1980
GEN,EAG "Patel PI &: Mol Cell Biol, 6, 393-403, 1986
REV,MUT "Renwick PJ &: Clin Genet, 48, 80-84, 1995

KEY

neu, mtbd, nucm

CLA

coding, basic

LOC

0X q26.1

MIM

MIM: 308000

EZN

ENZYME: 2.4.2.8

Смотрите также:

  • Gene: [20q1311/ADA] adenosine deaminase (adenosine aminohydrolase); immune deficiency, severe combined (due to ADA deficiency);
  • Эмбриональные стволовые (ЭС) клетки: общие сведения
  • HPRT Ген (ген гипоксантингуанинфосфорибозилтрансферазы)