Entrez gene ID | | 5631 |
Official gene symbol | | PRPS1 |
Full name | | phosphoribosyl pyrophosphate synthetase 1 |
Aliases | | ,ARTS,CMTX5,DFN2,DFNX1,KIAA0967,PPRibP,PRSI, |
Gene summary | | This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xq21.32-q24 |
Gene position | | 106871654 - 106894256 Map Viewer |
Gene orientation | | plus |
Gene size | | 22603 bp |
Gene sequence |
| |
OMIM ID | | 311850 |
|