Dystrophin (DMD) (Marker of Duchenne and Becker Muscular Dystrophy) [DMD/3245]

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Summary

Dystrophin-glycoprotein complex (DGC) connects the F-Actin cytoskeleton on the inner surface of muscle fibers to the surrounding extracellular matrix, through the cell membrane interface. A deficiency in this protein contributes to Duchenne (DMD) and Becker (BMD) muscular dystrophies. The human dystrophin gene measures 2.4 megabases, has more than 80 exons, produces a 14 kb mRNA and contains at least 8 independent tissue-specific promoters and 2 poly A sites. The dystrophin mRNA can undergo differential splicing and produce a range of transcripts that encode a large set of proteins. Dystrophin represents approximately 0.002% of total striated muscle protein and localizes to triadic junctions in skeletal muscle, where it is thought to influence calcium ion homeostasis and force transmission.

Product Properties & Targets

Host
Species Reactivity
Isotype
Cellular Localization
Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Postsynaptic cell membrane, Sarcolemma, Synapse
Light Chain
Gene Name
DMD
Positive Control
Human skeletal muscle and heart muscle tissues (IHC).
Immunogen
A recombinant fragment (around aa 114-263) of human DMD protein (exact sequence is proprietary)
Alternate Names
Dystrophin, BMD; CMD3B; Duchenne muscular dystrophy (DMD); Dystrophin; Muscular dystrophy Duchenne and Becker types

Database Links

Entrez Gene ID
Unigene
SwissProt

Additional Information

Clone
DMD/3245
Human Gene Symbol
DMD
Chromosome Location
Xp21.2
Mol. Weight of Antigen
427kDa

Functions

  • Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.

Known Applications & Suggested Dilutions

  • ELISA (For coating, order Ab without BSA)
  • ,Immunohistochemistry (Formalin-fixed) (1-2ug/ml for 30 minutes at RT),(Staining of formalin-fixed tissues requires heating tissue sections in 10mM Tris with 1mM EDTA, pH 9.0, for 45 min at 95&degC followed by cooling at RT for 20 minutes)
  • Optimal dilution for a specific application should be determined.

Key References

  • Blake DJ, et al. (2002) Function and genetics of dystrophin and dystrophin related proteins in muscle. Physiol Rev 82: 291-329.

PubMed Links

Storage & Stability

Antibody with azide - store at 2 to 8°C. Antibody without azide - store at -20 to -80°C. Antibody is stable for 24 months. Non-hazardous. No MSDS required.

Limitations

This antibody is available for research use only and is not approved for use in diagnosis.

Supplied as

200ug/ml of Ab Purified from Bioreactor Concentrate by Protein A/G. Prepared in 10mM PBS with 0.05% BSA & 0.05% azide. Also available WITHOUT BSA & azide at 1.0mg/ml.

Warranty

There are no warranties, expressed or implied, which extend beyond this description. Company is not liable for any personal injury or economic loss resulting from this product.

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