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.
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Protein Aliases: deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); Phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I; PPRibP; PRS-I; ribose-phosphate diphosphokinase 1; Ribose-phosphate pyrophosphokinase 1
Gene Aliases: 2310010D17Rik; ARTS; C76571; C76678; CMTX5; DFN2; DFNX1; PPRibP; Prps-1; PRPS1; PRS-I; PRSI