Purine Nucleoside Phosphorylase/PNP Antibody

Defects in NP are the cause of nucleoside phosphorylase deficiency (NP deficiency). It leads to a severe T-cell immunodeficiency with neurologic disorder in children. The specific function of NP is not yet known.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

This product is for research use only and is not approved for use in humans or in clinical diagnosis. Primary Antibodies are guaranteed for 1 year from date of receipt.

Array NBP1-54353

• Purine Nucleoside Phosphorylase/PNP Antibodies
• Purine Nucleoside Phosphorylase/PNP Lysate
• Purine Nucleoside Phosphorylase/PNP Protein
• Purine Nucleoside Phosphorylase/PNP Proteins and Enzyme