PNP Antibody – Goat 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: Transferase; Nucleotide Metabolism - purine; EC 2.4.2.1; Nucleotide Metabolism - pyrimidine; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide

Chromosomal Location of Human Ortholog: 14q13.1

Cellular Component: cytoplasm; cytoskeleton; cytosol; intracellular; nucleus

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

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

Disease: Purine Nucleoside Phosphorylase Deficiency