QuickView for PNP (gene)

Gene Symbol:

PNP Homo sapiens

Full name:

purine nucleoside phosphorylase

Synonyms:

NP, PRO1837, PUNP, purine nucleoside phosphorylase, HEL-S-156an, epididymis secretory sperm binding protein Li 156an, inosine phosphorylase, inosine-guanosine phosphorylase, purine-nucleoside:orthophosphate ribosyltransferase

Genomic Location:

Chr 14: 20007382-20015088

Description:

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 disorde...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Canis lupus familiaris ,  Bos taurus ,  Pan troglodytes ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

ATACCTC_MIR202

miRNA binding sites
(Source: miRecords):

hsa-miR-1 Targeted Genes

Cytogenetic Map:

14q11.2

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