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
Metabolism; Metabolism of nucleotides;Nicotinate and nicotinamide metabolism;Purine metabolism; Purine salvage; Pyrimidine metabolism; adenine and adenosine salvage III; adenine and adenosine salvage III; adenosine nucleotides degradation; adenosine nucleotides degradation II; arsenate detoxification I (glutaredoxin);
Citations
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