Purine nucleoside phosphorylase Antibody / PNP / Inosine phosphorylase

The PNP gene encodes purine nucleoside phosphorylase, an enzyme that catalyzes the reversible phosphorolysis of the purine nucleosides and deoxynucleosides inosine, guanosine, deoxyinosine, and deoxyguanosine. It is presented results from gene dosage studies consistent with assignment of the PNP locus to band 14q13. PNP is expressed in most tissues, with markedly greater expression in lymphoid tissues. Genetic deficiencies of PNP result in severely compromised T?lymphocyte function and neurologic dysfunction.