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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.
A kinase (PRKA) anchor protein 1; a kinase anchor protein 1, mitochondrial; Akap; AKAP 121; AKAP 149; Akap1; AKAP121; AKAP149; AKAP84; A-kinase anchor protein 1, mitochondrial; A-kinase anchor protein 121 kDa; A-kinase anchor protein 149 kDa; A-kinase anchoring protein 1; C76494; C81186; DAKAP1; D-AKAP1; D-AKAP-1; Dual specificity A-kinase-anchoring protein 1; dual-specificity A-kinase anchoring protein 1; PPP1R43; PRKA1; protein kinase A anchoring protein 1; protein kinase A1; protein kinase A-anchoring protein 1; protein phosphatase 1, regulatory subunit 43; S-AKAP; SAKAP84; S-AKAP84; spermatid A-kinase; Spermatid A-kinase anchor protein; spermatid A-kinase anchor protein 84; TDRD17; testicular secretory protein Li 5; tudor domain containing 17
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