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PRPS1

Official Full Name
phosphoribosyl pyrophosphate synthetase 1
Organism
Homo sapiens
GeneID
5631
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. [provided by RefSeq, Feb 2011]
Synonyms
ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP;

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