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PNP / Nucleoside Phosphorylase
purine nucleoside phosphorylase
Nucleoside Phosphorylase / PNP is 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.
| Gene Name: | purine nucleoside phosphorylase |
| Synonyms: | PNP, Inosine phosphorylase, NP, Nucleoside phosphorylase, PUNP, PRO1837 |
| Target Sequences: | NM_000270 NP_000261.2 P00491 |
Publications (1)
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