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Overview
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PNP 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.
PRODUCT INFORMATION
Antigen Species: Human
NCBI Accession No: NP_000261.2
RNA Reference Number: NM_000270.3
OMIM Number: 164050
Chromosome Location: 14q13.1
cDNA size: 870bp
Vector description: This shuttle vector contains the complete ORF. It is inseted BamH I to Xho I. The gene insert contains multiple cloning sites which can be used to easily cut and transfer the gene and recombination site into your expression vector.Please contact us at for specific academic pricing.
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