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Protein Page:
NP (human)

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. Note: This description may include information from UniProtKB.
Protein type: Cofactor and Vitamin Metabolism - nicotinate and nicotinamide; EC; Nucleotide Metabolism - purine; Nucleotide Metabolism - pyrimidine; Transferase
Chromosomal Location of Human Ortholog: 14q13.1
Cellular Component: cytoplasm; cytosol; intracellular
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
Reference #:  P00491 (UniProtKB)
Alt. Names/Synonyms: FLJ94043; FLJ97288; FLJ97312; Inosine phosphorylase; MGC117396; MGC125915; MGC125916; NP; nucleoside phosphorylase; PNP; PNPH; PRO1837; PUNP; Purine nucleoside phosphorylase; purine-nucleoside:orthophosphate ribosyltransferase
Gene Symbols: PNP
Molecular weight: 32,118 Da
Basal Isoelectric point: 6.45  Predict pI for various phosphorylation states
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Protein Structure Not Found.
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