Gene: PNP

Alternate names for this Gene: NP|PRO1837|PUNP

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: purine nucleoside phosphorylase

Type of Gene: protein-coding

rs1760940 in PNP gene and Age at menopause PMID 22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1049564 in PNP gene and Interferon Alpha Measurement PMID 25338677 2015 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.

rs1049564 in PNP gene and Lupus Erythematosus, Systemic PMID 25338677 2015 Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.

rs1026474882 in PNP gene and Purine-nucleoside phosphorylase deficiency PMID 9067751 1997 Mutations in purine nucleoside phosphorylase deficiency.

PMID 24767876 2014 Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

PMID 8931706 1996 Two novel missense and frameshift mutations in exons 5 and 6 of the purine nucleoside phosphorylase (PNP) gene in a severe combined immunodeficiency (SCID) patient.

PMID 3029074 1987 A human purine nucleoside phosphorylase deficiency caused by a single base change.

PMID 1384322 1992 Molecular analysis of mutations in a patient with purine nucleoside phosphorylase deficiency.

PMID 22132981 2011 Purine nucleoside phosphorylase deficiency: a mutation update.