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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PNP-20-RE | 20 (40 μL) | 200 μL |  |
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| PNP-20-OR | 20 (40 μL) | 200 μL |  |
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| PNP-20-GO | 20 (40 μL) | 200 μL |  |
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| PNP-20-GR | 20 (40 μL) | 200 μL |  |
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| PNP-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PNP
Gene Name : Purine nucleoside phosphorylase
Chromosome : CHR 14: 204,693,78-204,780,05
Locus : 14q11.2
Alt. Genes : TRIM28
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