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Official Full Name
purine nucleoside phosphorylase
Background
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.
Synonyms
PNP; purine nucleoside phosphorylase; NP, nucleoside phosphorylase; PUNP; FLJ97312; FLJ94043; FLJ97288; Inosine phosphorylase; MGC117396; MGC125915; MGC125916; NP; Np1; Nucleoside phosphorylase; Pnp1; PNPH_HUMAN; PRO1837; Purine nucleoside orthophosphate ribosyltransferase; OTTHUMP00000163992; purine-nucleoside:orthophosphate ribosyltransferase