Gene: [0Xp22/PRPS2] phosphoribosyl pyrophosphate synthetase 2; hyperuricemia due to PRPS-2 deficiency;
PRO | A cDNA probe identifies this gene within two BamHI genomic fragments (11.5 and 5.6 kb)." |
REF | LOC "Becker MA &: Science, 203, 1016-1019, 1979 CLO,SEQ "Iizasa T &: Adv Exp Med Biol, 253, 519-523, 1989a CLO,SEQ "Iizasa T &: FEBS Lett, 244, 47-50, 1989b MOP "Lebo RV, Martin: Biochem Genet, 16, 905-916, 1978 LOC,PRO,FAG "Taira M &: Somat Cell Mol Genet, 15, 29-37, 1989 LOC,PRO,FAG "Taira M &: CCG, 46, (HGM9), 702, 1987 MAP "Wang JC &: Somat Cell Mol Genet, 18, 195-200, 1992 LOC "Yen RC &: PNAS, 75, 482-485, 1978 |
SWI | SWISSPROT: P11908 |
KEY | mtbd, neu, nucm |
CLA | coding, basic |
LOC | 0X p22.3-.2 |
MIM | MIM: 311860 |
EZN | ENZYME: 2.7.6.1 |
Ссылки:
- Gene: [21q221/GART] trifunctional protein GARS-AIRS-GART; phosphoribosylglycinamide formyltransferase (EC:2.1.2.2); phosphoribosylaminoimidazole synthetase (EC:6.3.3.1); phosphoribosylglycinamide synthetase (EC:6.3.4.13);
- Gene: [0Xq2/PRPS1] phosphoribosyl pyrophosphate synthetase 1; gout/urolithiasis/deafness/neurodysgenesis (PRPS1 superactivity);
- PRPS2 ген
- PRPP-синтетаза-HUGEN