PrimePCR™ ddPCR™ Expression Probe Assay: PKD1, Human


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

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCEP0049214; exonic

Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5191720
Chromosome Location:   16:2152840-2153284question
Amplicon Length:   120

Gene Information

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also six pseudogenes closely linked in a known duplicated region on chromosome 16p have been described. [provided by RefSeq Oct 2008]

Gene Symbol:   PKD1
Gene Name:   polycystic kidney disease 1 (autosomal dominant)
Aliases:   PBP, Pc-1, TRPP1
RefSeq:   NC_000016.9 NG_005895.1 NT_010393.16 NG_008617.1
Ensembl:   ENSG00000008710
Entrez:   5310
UniGene:   Hs.75813
Chromosome Mapping:   16p13.3

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