PrimePCR™ Probe Assay: PNP, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0055635
Assay Design:   exonic
Chromosome Location:   14:20940512-20940613question
Amplicon Length:   72
Splice Variants Targeted:   ENST00000553418 ENST00000361505 ENST00000553591 ENST00000554065

Gene Information

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. [provided by RefSeq Jul 2008]

Gene Symbol:   PNP
Gene Name:   purine nucleoside phosphorylase
Aliases:   FLJ94043, FLJ97288, FLJ97312, MGC117396, MGC125915, MGC125916, NP, PRO1837, PUNP
RefSeq:   NC_000014.8 NG_009631.1 NT_026437.12
Ensembl:   ENSG00000198805
Entrez:   4860
Chromosome Mapping:   14q13.1

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