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Home TrueClone DYSF Clone

DYSF (NM_001130455) Human cDNA Clone

Specifications Citations Clones of Other Species Product Documents
SKU Description Price Availibility*  
SC326424 DYSF (untagged)-Human dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 2 (10ug), NM_001130455.1, 10ug $3750 11 weeks
TF81001 TurboFectin, High performance Transfection reagent (1ml/vial) $420 In Stock
TA314722 Rabbit polyclonal anti-Dysferlin antibody, 100ul $325 3 Weeks
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OriGene Data
Vector:pCMV6-XL Insert Size: Restriction Site:
Sequence Data: Fully Sequenced ORF          5' Read Nucleotide Sequence         
OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA
OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
Product Components: The cDNA clone is shipped in a 2-D bar-coded Matrix tube as dried plasmid DNA. The package also includes 100 pmols of both the corresponding 5' and 3' vector primers in separate vials. Every lot of primer is tested to provide clean sequencing of OriGene TrueClones.
Protein Families: Transmembrane
Reference Data
RefSeq: NM_001130455.1, NP_001123927
RefSeq Size: RefSeq ORF: 6245
Synonyms : FER1L1; LGMD2B; MMD1
LocusID: 8291 Cytogenetic: 2p13.3
Summary: 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].

Transcript Variant: This variant (2) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2 which is shorter than isoform 1.

* Delivery time is an estimate in business days. Occasional delays may occur due to unforeseen complexities in the preparation of your construct. International customers may expect an additional 1-2 weeks in shipping

 

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