Nucleoside phosphorylase ist ein Gen, das durch das Symbol PNP kodiert wird. Im Allgemeinen auch bezeichnet als: Purine PNP; Inosine phosphorylase; Inosine-guanosine phosphorylase; NP. Nucleoside phosphorylase hat eine Masse von 32.12kDa, eine Aminosäurelänge von 289, und ist an Purine nucleoside phosphorylase deficiency beteiligt.
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Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Rolle bei Krankheiten
Purine nucleoside phosphorylase deficiency: A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment.
Sequenzähnlichkeiten
Belongs to the PNP/MTAP phosphorylase family.
Zellort
Cytoplasm > Cytoskeleton. Cytoplasm.
