PNP Antibody – Rabbit Polyclonal

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]

NP: a metabolic enzyme with purine-nucleoside phosphorylase activity. Defects are the cause of nucleoside phosphorylase deficiency (NP deficiency), with severe T-cell immunodeficiency with neurologic disorder in children.

Protein type: Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; EC 2.4.2.1; Transferase

Chromosomal Location of Human Ortholog: 14q13.1

Cellular Component: cytoskeleton; cytoplasm; intracellular; cytosol

Molecular Function: purine binding; nucleoside binding; drug binding; phosphate binding; purine-nucleoside phosphorylase activity

Biological Process: response to drug; nicotinamide riboside catabolic process; inosine catabolic process; nucleobase, nucleoside and nucleotide metabolic process; nucleobase, nucleoside, nucleotide and nucleic acid metabolic process; purine nucleotide catabolic process; immune response; positive regulation of T cell proliferation; positive regulation of alpha-beta T cell differentiation; purine base metabolic process; purine salvage

Disease: Purine Nucleoside Phosphorylase Deficiency