PrimePCR™ ddPCR™ Expression Probe Assay: DMPK, Human

PrimePCR

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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCIP0029376; Intron-spanning

 
Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5052236
Chromosome Location:   19:46281778-46282575question
Amplicon Length:   146

Gene Information

The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin the beta-subunit of the L-type calcium channels and phospholemman. The 3' untranslated region of this gene contains 5-37 copies of a CTG trinucleotide repeat. Expansion of this unstable motif to 50-5000 copies causes myotonic dystrophy type I which increases in severity with increasing repeat element copy number. Repeat expansion is associated with condensation of local chromatin structure that disrupts the expression of genes in this region. Several alternatively spliced transcript variants of this gene have been described but the full-length nature of some of these variants has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   DMPK
Gene Name:   dystrophia myotonica-protein kinase
Aliases:   DM, DM1, DM1PK, DMK, MDPK, MT-PK
RefSeq:   NC_000019.9 NG_012745.1 NT_011109.16 NG_009784.1
Ensembl:   ENSG00000104936
Entrez:   1760
UniGene:   Hs.631596
Chromosome Mapping:   19q13.3

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