Protein Name phosphoribosyl pyrophosphate synthetase 1
Organism Homo sapiens
Gene ID 5631
Gene Symbol


UniProt P60891 (PRPS1_HUMAN), B7ZB02 (B7ZB02_HUMAN)
Relationships Total Number of functionally related compound(s) : 57
Total Number of Articles : 47

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]

  • ribose-phosphate pyrophosphokinase 1
  • dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)
  • deafness 2, perceptive, congenital
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