Description
General description
Dystrophin (UniProt P11532) is encoded by the DMD (also known as BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85) gene (Gene ID 1756) in human. Dystrophin is a cytoplasmic protein and, a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. It is expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma. Its expression is also reported in brain, muscle, kidney, lung and testis. Dystrophin is localized to the inner part of the muscle fiber cell membrane (sarcolemma), where it forms the dystrophin-associated glycoprotein complex (DGC) that links the extracellular matrix to the actin cytoskeleton. The N-terminus is the actin-binding domain, and the carboxy-terminal domain interacts with beta-dystroglycan as well as dystrobrevin and the syntrophin. The central rod domain that comprises the major mass of the dystrophin molecule forms a flexible, rod-shaped structure. Dystrophin plays an important role in stabilizing the muscle fiber against the mechanical forces of muscle contraction by providing a shock-absorbing connection between the cytoskeleton and the extracellular matrix. The DMD gene is the largest known gene in humans and mutations in this gene are known to cause Duchenne muscular dystrophy (DMD), a sex-linked recessive disorder that affects males aged 3 to 7 year as proximal muscle weakness with steady progression. The mutations in DMD gene disrupts the open reading frame (ORF) and prevent the full translation of dystrophin. ORF restoration by exon skipping using antisense oligonucleotides is designed to transform the DMD phenotype to that of the milder disorder, Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin deletions that allow the production of an internally deleted, but partially functional dystrophin. Since abnormalities in the protein expression occur specifically in patients with these types of muscular dystrophy, dystrophin analysis may be used to distinguish these conditions from other neuromuscular diseases. (Ref.: Lu, QL et al. (2003) Nat Med 9(8) 1009-1014, (PMID 12847521); Lu, QL et al. (2005) PNAS 102(1) 198-203. (PMID 15608067); Wu, B. et al. (2008) PNAS 105 (39) 14814-14819 (PMID 18806224).
Immunogen
Recombinant fragment corresponding to 231 amino acids from the C-terminal half of the human Dystrophin protein.
Application
Quality Control Testing
Evaluated by Western Blotting in lysate from mouse skeletal muscle tissue.
Western Blotting Analysis: A 1:1,000 dilution of this antibody detected Dystrophin protein in lysate from mouse skeletal muscle tissue.
Tested Applications
Western Blotting Analysis: A 1:1,000 dilution of this antibody detected Dystrophin protein in lysate from human skeletal muscle tissue.
Immunohistochemistry Applications: A representative lot detected Dystrophin in Immunohistochemistry application (Lu, QL et al. (2005) PNAS 102(1) 198-203).
ELISA Analysis: A representative lot detected Dystrophin in ELISA application (Lu, QL et al. (2003) Nat Med 9(8) 1009-1014).
Western Blotting Analysis: A representative lot detected Dystrophin in Western Blotting application (Lu, QL et al. (2003) Nat Med 9(8) 1009-1014).
Note: Actual optimal working dilutions must be determined by end user as specimens, and experimental conditions may vary with the end user.
Biochem/physiol Actions
This rabbit polyclonal antibody detects Dystrophin. It targets an epitope within 231 amino acids from the C-terminal half of the protein.
Physical form
Purified rabbit polyclonal antibody in PBS with 0.1% BSA with 0.05% sodium azide.
Preparation Note
0.5 mg/mL. Please refer to guidance on suggested starting dilutions and/or titers per application and sample type.
Recommended storage: +2°C to +8°C.
Other Notes
Concentration: Please refer to the Certificate of Analysis for the lot-specific concentration.
Disclaimer
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
