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 |
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