Aliases for PRPSAP2 Gene
- Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2 2 3 5
- PAP41 2 3 4
- 41 KDa Phosphoribosypyrophosphate Synthetase-Associated Protein 3 4
- Phosphoribosyl Pyrophosphate Synthase-Associated Protein 2 3 4
- PRPP Synthase-Associated Protein 2 3 4
- Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2 2
- PRPSAP2 5
External Ids for PRPSAP2 Gene
Previous GeneCards Identifiers for PRPSAP2 Gene
This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
GeneCards Summary for PRPSAP2 Gene
PRPSAP2 (Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2) is a Protein Coding gene. Diseases associated with PRPSAP2 include Deafness, X-Linked 1 and Charcot-Marie-Tooth Disease, X-Linked Recessive, 5. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and ribose phosphate diphosphokinase activity. An important paralog of this gene is PRPSAP1.
UniProtKB/Swiss-Prot Summary for PRPSAP2 Gene
Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.