PrimePCR™ Probe Assay: PKP1, 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:   qHsaCEP0049730
Assay Design:   exonic
Chromosome Location:   1:201289414-201289505question
Amplicon Length:   62
Splice Variants Targeted:   ENST00000367324 ENST00000352845 ENST00000263946

Gene Information

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats localize to cell desmosomes and nuclei and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2010]

Gene Symbol:   PKP1
Gene Name:   plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Aliases:   B6P, MGC138829
RefSeq:   NC_000001.10 NG_023337.1 NT_004487.19
Ensembl:   ENSG00000081277
Entrez:   5317
Chromosome Mapping:   1q32

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