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PNP purine nucleoside phosphorylase

Also known as: NP; PUNP; PRO1837

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]

Associated conditions

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DescriptionTests
Purine-nucleoside phosphorylase deficiency
MedGen: C0268125OMIM: 613179GeneReviews: Not available
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Genomic context

Location:
14q11.2
Sequence:
Chromosome: 14; NC_000014.9 (20469379..20478006)
Total number of exons:
6

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