PrimePCR™ ddPCR™ Expression Probe Assay: BEST1, 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 qHsaCEP0053775; exonic

Fluorophore:   HEX
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5040207
Chromosome Location:   11:61727494-61729841question
Amplicon Length:   107

Gene Information

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2) also known as Best macular dystrophy in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq Nov 2008]

Gene Symbol:   BEST1
Gene Name:   bestrophin 1
Aliases:   ARB, BEST, BMD, RP50, TU15B, VMD2
RefSeq:   NC_000011.9 NG_008346.1 NT_167190.1 NG_009033.1
Ensembl:   ENSG00000167995
Entrez:   7439
UniGene:   Hs.712676
Chromosome Mapping:   11q13

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