Gene: [0Xq2/PRPS1] phosphoribosyl pyrophosphate synthetase 1; gout/urolithiasis/deafness/neurodysgenesis (PRPS1 superactivity);
|
IDN |
The cDNA probe identifies this gene within two BamHI genomic fragments
(11.5 and 5.6 kb)." |
|
FAG |
Two other isoforms were found: one of them is also located in Chr X, but in another region (GEM:0Xp22/PRPS2); another one is assigned to Chr 7 (GEM:07^/PRPS3). The latter is considered by GDB as like sequence PRPS1L1. In addition, two PRPS-related loci were reserved: for PRPS1-like 2 sequence (GEM:09q3/PRPS1L2) and PRPS associated protein (00.0/PRPSAP1)." |
|
REF |
FUN,PAT "Becker MA &: J Clin Invest, 96, 2133-2141, 1995 LOC,PRO,FAG "Becker MA &: Genomics, 8, 555-561, 1990 LOC "Becker MA &: Science, 203, 1016-1019, 1979 MUT "Roessler BJ &: JBC, 268, 26476-26481, 1993 CLO,SEQ "Roessler BJ &: NAR, 18, 193-193, 1990 CLO,SEQ "Sonoda T &: J Biochem, 109, 361-364, 1991 LOC,PRO,FAG "Taira M &: Somat Cell Mol Genet, 15, 29-37, 1989 LOC,PRO,FAG "Taira M &: CCG, 46, (HGM9), 702, 1987 LOC "Yen RC &: PNAS, 75, 482-485, 1978 |
|
KEY |
urea, nucm, mtbd, neu, ren |
|
CLA |
coding, basic |
|
LOC |
0X q22-24 |
|
MIM |
MIM: 311850 |
|
EZN |
ENZYME: 2.7.6.1 |
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