Rabbit anti-Human PNP Polyclonal Antibody | anti-PNP antibody
PNP Antibody (Center)
Western Blot (WB)
(Western blot analysis of lysates from Daudi, HT-1080, K562, MCF-7, MDA-MB-231 cell line (from left to right), using PNP Antibody (Center). MBS9212480 was diluted at 1:1000 at each lane. A goat anti-rabbit IgG H&L(HRP) at 1:5000 dilution was used as the secondary antibody. Lysates at 35ug per lane.)
Williams S.R.,et al.J. Biol. Chem. 262:2332-2338(1987).
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Ota T.,et al.Nat. Genet. 36:40-45(2004).
Ebert L.,et al.Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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; EC 2.4.2.1; Nucleotide Metabolism - pyrimidine; Nucleotide Metabolism - purine; Cofactor and Vitamin Metabolism - nicotinate and nicotinamide
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; nucleobase, nucleoside and nucleotide metabolic process; nicotinamide riboside catabolic process; inosine catabolic process; nucleobase, nucleoside, nucleotide and nucleic acid metabolic process; purine nucleotide catabolic process; positive regulation of T cell proliferation; immune response; positive regulation of alpha-beta T cell differentiation; purine salvage; purine base metabolic process
Disease: Purine Nucleoside Phosphorylase Deficiency