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DMD (NM_004018) Purified Human Protein

Specifications Citations Customer Service Product Documents
Cat. No. Description Datasheet Price Availability*  
TP315529 Recombinant protein of human dystrophin (DMD), transcript variant Dp71ab, 20 ug (Larger pack size?) 680 In Stock
TA316667 Dystrophin Rabbit Polyclonal Antibody $345 3-7 Days
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OriGene Data
Species:Human Expression Host:HEK293 cells
Expression cDNA Clone or AA Sequence
Recombinant protein was produced with TrueORF clone, RC215529. Click on the TrueORF clone link to view cDNA and protein sequences.
Tag:C-terminal MYC/DDK Predicted MW:70.6 kDa
Purity:> 80% as determined by SDS-PAGE and Coomassie blue staining
Concentration:>50 ug/mL as determined by microplate BCA method
Buffer:25 mM Tris.HCl, pH 7.3, 100 mM glycine, 10% glycerol.
Preparation: Recombinant protein was captured through anti-DDK affinity column followed by conventional chromatography steps.
Protein Pathways: Hypertrophic cardiomyopathy (HCM)Arrhythmogenic right ventricular cardiomyopathy (ARVC)Dilated cardiomyopathyViral myocarditis
Protein Data
Protein Image
 

Reference Data
RefSeq: NP_004009 RefSeq Size: 4552 RefSeq ORF: 1869
LocusID: 1756 Cytogenetic: Xp21.2  
Synonyms : BMD; CMD3B; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; MRX85
Summary: The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008].
*: Inventory for certain proteins may be limited due to low expression level. Delivery time may vary from web posted schedule. Contact techsupport@origene.com for specific inventory information
**: DDK-tag is the same as FLAG tag. Flag® is a registered trademark of Sigma-Aldrich

 

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