Aliases for PRPS2 Gene
External Ids for PRPS2 Gene
Previous GeneCards Identifiers for PRPS2 Gene
This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
GeneCards Summary for PRPS2 Gene
PRPS2 (Phosphoribosyl Pyrophosphate Synthetase 2) is a Protein Coding gene. Diseases associated with PRPS2 include Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 and Arts Syndrome. Among its related pathways are Carbon metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and carbohydrate binding. An important paralog of this gene is PRPS1L1.
UniProtKB/Swiss-Prot Summary for PRPS2 Gene
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.