{"symbol":"PRPS1","synonyms":["CMTX5","PRSI","DFNX1","PPRIBP","PRS-I","DFN2"],"name":"phosphoribosyl pyrophosphate synthetase 1","description":"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]","ncbiEntrezGeneId":5631,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/5631","proteins":[{"symbol":"PRPS1_HUMAN","href":"/api/1.0/protein/PRPS1_HUMAN"}],"hgncRootFamilies":[]}