Presku: | AAP48474 |
Size: | 100 ug |
Weight: | 32kDa |
Gene: | 4860 |
Format: | Lyophilized powder |
Target: | Defects in NP are the cause of nucleoside phosphorylase deficiency (NP deficiency). It leads to a severe T-cell immunodeficiency with neurologic disorder in children. The specific function of NP is not yet known.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications. |
Alternative names: | MGC117396; MGC125915; MGC125916; PNP; PRO1837; PUNP |