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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CMTX5; congenital; deafness; deafness 2; deafness 2, perceptive, congenital; deafness, X-linked 2, perceptive, congenital; DFN2; DFNX1; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); perceptive; Phosphoribosyl pyrophosphate synthase I; phosphoribosyl pyrophosphate synthetase I; PPRibP; PRS-I; PRSI; ribose-phosphate diphosphokinase 1; Ribose-phosphate pyrophosphokinase 1; X-linked 2