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.
应用类型
WB
免疫原
The immunogen is a synthetic peptide directed towards the middle region of human NP
All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil). Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.
其他
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