Aliases for PNP Gene
External Ids for PNP Gene
Previous HGNC Symbols for PNP Gene
Previous GeneCards Identifiers for PNP Gene
This gene encodes an enzyme which reversibly catalyzes the phosphorolysis of purine nucleosides. The enzyme is trimeric, containing three identical subunits. Mutations which result in nucleoside phosphorylase deficiency result in defective T-cell (cell-mediated) immunity but can also affect B-cell immunity and antibody responses. Neurologic disorders may also be apparent in patients with immune defects. A known polymorphism at aa position 51 that does not affect enzyme activity has been described. A pseudogene has been identified on chromosome 2. [provided by RefSeq, Jul 2008]
GeneCards Summary for PNP Gene
PNP (Purine Nucleoside Phosphorylase) is a Protein Coding gene. Diseases associated with PNP include Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency and Adenosine Deaminase Deficiency. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include drug binding and nucleoside binding.
UniProtKB/Swiss-Prot for PNP Gene
The purine nucleoside phosphorylases catalyze the phosphorolytic breakdown of the N-glycosidic bond in the beta-(deoxy)ribonucleoside molecules, with the formation of the corresponding free purine bases and pentose-1-phosphate.