Description
Product Characteristics: The reagents were evaluated for potency, purity and specificity using most or all of the following techniques: immunoelectrophoresis, cross-immunoelectrophoresis, single radial immunodiffusion (Ouchterlony), block titration, ELISA, immunoblotting and enzyme inhibition.
Target Information: 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]