Nucleoside phosphorylase è un gene codificato dal simbolo PNP. Comunemente indicato anche come: Purine PNP; Inosine phosphorylase; Inosine-guanosine phosphorylase; NP. Nucleoside phosphorylase ha una massa di 32.12kDa, una lunghezza di amminoacidi di 289, ed è implicato in Purine nucleoside phosphorylase deficiency.
Offriamo 7 anticorpi contro Nucleoside phosphorylase, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA, ICC/IF, IP e Dot-Blot con campioni derivati da Umano, Topo e Bovino.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Expressed in red blood cells; overexpressed in red blood cells (cytoplasm) of patients with hereditary non-spherocytic hemolytic anemia of unknown etiology.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the PNP/MTAP phosphorylase family.
Posizione cellulare
Cytoplasm > Cytoskeleton. Cytoplasm.
