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.
Pathway
Adaptive Immune System; Allograft rejection; Autoimmune thyroid disease; CD28 co-stimulation; CD28 dependent PI3K/Akt signaling; CD28 dependent Vav1 pathway; CTLA4 inhibitory signaling; Cell adhesion molecules (CAMs); Constitutive PI3K/AKT Signaling in Cancer; Costimulation by the CD28 family; DAP12 interactions; DAP12 signaling; Disease; Downstream Signaling Events Of B Cell Receptor (BCR); Downstream signal transduction; Downstream signaling of activated FGFR; Fc epsilon receptor (FCERI) signa
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