Gene Symbol | PRPS1 |
Entrez Gene ID | 5631 |
Full Name | phosphoribosyl pyrophosphate synthetase 1 |
Synonyms | ARTS,CMTX5,DFN2,DFNX1,PPRibP,PRS-I,PRSI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Gout, PRPS-related, 300661 (3); Phosphoribosylpyrophosphate synthetase superactivity, 300661 (3); Charcot-Marie-Tooth disease, X-linked recessive, 5, 311070 (3); Arts syndrome, 301835 (3); Deafness, X-linked 1, 304500 (3) |