PRPS1 - Gene Detail
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| Gene Symbol | PRPS1 | ||||||||||||
| Synonyms | ARTS | CMTX5 | DFN2 | DFNX1 | PPRibP | PRS-I | PRSI | ||||||||||||
| Gene Description | PRPS1, phosphoribosyl pyrophosphate synthetase 1, catalyzes the formation of phosphoribosyl pyrophosphate from ATP and ribose-5-phosphate, which is required for purine, pyrimidine, and pyridine-nucleotide synthesis (PMID: 14392173, PMID: 26089585, PMID: 20380929), and plays a role in cell cycle regulation (PMID: 31253668) and stem cell self-renewal and survival (PMID: 33493137). Mutations in PRPS1 have been associated with chemotherapy resistance in pediatric acute lymphoblastic leukemia (PMID: 25962120) and Burkitt’s lymphoma (PMID: 32391636). | ||||||||||||
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