PrimePCR™ ddPCR™ Expression Probe Assay: DYSF, Human

PrimePCR

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 qHsaCIP0028289; Intron-spanning

 
Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5050455
Chromosome Location:   2:71825771-71827906question
Amplicon Length:   150

Gene Information

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events suggesting that it may be involved in membrane regeneration and repair. In addition the protein encoded by this gene binds caveolin-3 a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq Aug 2008]

Gene Symbol:   DYSF
Gene Name:   dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)
Aliases:   FER1L1, FLJ00175, FLJ90168, LGMD2B
RefSeq:   NC_000002.11 NT_022184.15 NG_008694.1
Ensembl:   ENSG00000135636
Entrez:   8291
UniGene:   Hs.252180
Chromosome Mapping:   2p13.3

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