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Home TrueClone DYSF Clone

DYSF (NM_003494) Human cDNA Clone

Specifications Citations Clones of Other Species Product Documents
SKU Description Price Availibility*  
SC303318 ORIGENE UNIQUE VARIANT 1 of Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), as transfection-ready DNA NM_003494.2, 10ug $3750 In Stock
TF81001 TurboFectin, High performance Transfection reagent (1ml/vial) $420 In Stock
TA314722 Rabbit polyclonal anti-Dysferlin antibody, 100ul $325 2 Weeks
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OriGene Data
Vector:pCMV6-XL6 Insert Size: 6700 Restriction Site:
Sequence Data: Fully Sequenced ORF          5' Read Nucleotide Sequence          3' Read Nucleotide Sequence         
OTI Annotation: This TrueClone was found to represent an alternative form of the specific reference to which it is associated. Its Open Reading Frame (ORF) may represent a novel form or alternative splice variant. By virtue of it being a true transcript (cDNA clone not PCR product), it provides a biologically relevant copy of its mRNA template. For more details, please evaluate the sequence information provided on this website or contact our customer care specialists.
OTI Disclaimer: The sequence of an 'OriGene Unique Variant' differs significantly from the associated reference. It represents a novel splice variant from the same gene locus of the reference. Although such variants are true transcripts and present opportunity for discoveries, they are not yet curated by NCBI and should not be used if the exact reference accession sequence is required.
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_003494.2, NP_003485
RefSeq Size: 6907 RefSeq ORF: 6243
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 (8) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (8) with an alternate N-terminus compared to 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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