PRPS1, Official Symbol PRPS1provided by HGNC Official Full Name phosphoribosyl pyrophosphate synthetase 1provided by HGNC Primary source HGNC:HGNC:9462 See related Ensembl:ENSG00000147224 MIM:311850; AllianceGenome:HGNC:9462 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP 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] Expression Ubiquitous expression in thyroid (RPKM 27.0), brain (RPKM 23.0) and 25 other tissues See more Orthologs mouse all