PNP, Official Symbol PNPprovided by HGNC Official Full Name purine nucleoside phosphorylaseprovided by HGNC Primary source HGNC:HGNC:7892 See related Ensembl:ENSG00000198805 MIM:164050; AllianceGenome:HGNC:7892 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo 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] Expression Broad expression in bone marrow (RPKM 94.2), kidney (RPKM 44.4) and 18 other tissues See more Orthologs mouse all