| Protein Name | phosphoribosyl pyrophosphate synthetase 1 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 5631 |
| Gene Symbol | PRPS1 |
| UniProt | P60891 (PRPS1_HUMAN), B7ZB02 (B7ZB02_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
57
Total Number of Articles : 47 |
Description |
phosphoribosyl pyrophosphate synthetase 1 |
| 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011] |
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