PNP Chromosome 14
Purine nucleoside phosphorylase
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What This Gene Does
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]
Associated Conditions (3)
Purine-nucleoside phosphorylase deficiency
Severe combined immunodeficiency disease
Acute myeloid leukemia
Key Variants
RS104894452
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS201497504
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS2501830093
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS367991537
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS369193020
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS563086985
Conflicting classifications of pathogenicity
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS104894454
Likely pathogenic
Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency
Health Risk
RS1368860049
Likely pathogenic
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS1398420394
Likely pathogenic
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS1464236744
Likely pathogenic
Health Risk
RS1882052778
Likely pathogenic
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
RS2139331878
Likely pathogenic
Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
Health Risk
All Variants (36)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894452 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS201497504 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2501830093 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS367991537 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS369193020 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS563086985 | Health Risk | Conflicting classifications of pathogenicity | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS104894454 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS1368860049 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1398420394 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1464236744 | Health Risk | Likely pathogenic | — |
| RS1882052778 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2139331878 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2501830039 | Health Risk | Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2501834109 | Health Risk | Likely pathogenic | — |
| RS104894453 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS104894455 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS104894460 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1566525400 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1566525641 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1882116704 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2139335365 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2139338450 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2501835086 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2501836909 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS754734713 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS755340747 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS772212348 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS867750505 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS896550845 | Health Risk | Pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS1026474882 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Acute myeloid leukemia |
| RS104894450 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS104894451 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS1247497521 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency |
| RS1594427504 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS2139335095 | Health Risk | Pathogenic/Likely pathogenic | Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency |
| RS922257453 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency disease, Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease |