Aliases for PRPS1 Gene
External Ids for PRPS1 Gene
Previous HGNC Symbols for PRPS1 Gene
Previous GeneCards Identifiers for PRPS1 Gene
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]
GeneCards Summary for PRPS1 Gene
PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1) is a Protein Coding gene. Diseases associated with PRPS1 include Arts Syndrome and Phosphoribosylpyrophosphate Synthetase Superactivity. Among its related pathways are Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is PRPS2.
UniProtKB/Swiss-Prot Summary for PRPS1 Gene
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.