PNP
purine nucleoside phosphorylase
Synonyms:
NP, PRO1837, PUNP
Species:
Human PNP (4860), Mouse Pnp (18950), Rat Pnp (290029), chicken PNP (769958), domestic cat PNP (101081226), dog PNP (475393), cow PNP (493724), naked mole-rat Pnp (101708512), domestic guinea pig Pnp (100718329)
UniProtKB ID:
Gene ID:
- Human(4860) Summary: 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]
- Mouse(18950) purine-nucleoside phosphorylase
- Rat(290029) purine nucleoside phosphorylase
- chicken(769958) purine nucleoside phosphorylase
- domestic cat(101081226) purine nucleoside phosphorylase
- dog(475393) purine nucleoside phosphorylase
- cow(493724) purine nucleoside phosphorylase
- naked mole-rat(101708512) purine nucleoside phosphorylase
- domestic guinea pig(100718329) purine nucleoside phosphorylase
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