||ORF Nucleotide Sequence (Length: 870bp)
||pcDNA3.1-C-(k)DYK or customized vector
|Tag on pcDNA3.1-C-(k)DYK
||C terminal DYKDDDDK tags
|ORF Insert Method
||CloneEZ® Seamless cloning technology
||Homo sapiens (human)
||purine nucleoside phosphorylase
||REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BM193354.1, BC106074.1,
AL355075.6 and BU622706.1.
This sequence is a reference standard in the RefSeqGene project.
On Dec 5, 2009 this sequence version replaced gi:157168361.
Summary: 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].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
Transcript exon combination :: BC106074.1, EU794649.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
COMPLETENESS: complete on the 3' end.