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prps1

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Official Full Name
phosphoribosyl pyrophosphate synthetase 1
Background
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.
Synonyms
PRPS1; phosphoribosyl pyrophosphate synthetase 1; deafness, X linked 2, perceptive, congenital , DFN2; ribose-phosphate pyrophosphokinase 1; CMTX5; DFNX1; PRS I; ribose phosphate diphosphokinase 1; deafness 2, perceptive, congenital; ribose-phosphate diph; ribose-phosphate diphosphokinase 1; phosphoribosyl pyrophosphate synthase I; deafness, X-linked 2, perceptive, congenital; dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1); ARTS; DFN2; PRSI; PRS-I; PPRibP; KIAA0967; PRS-I, C76571, C76678, Prps-1, 2310010D17Rik

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