Dystrophin (DMD) (Marker of Duchenne and Becker Muscular Dystrophy)
Product Specifications
Gene Name
[DMD]
NCBI Gene ID
1756
Reactivity
Human
Storage Conditions
Antibody without azide: store at -20 to -80 degree C. Non-hazardous. No MSDS required.
Specificity
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.
Other Gene Names
[DMD; DMD; BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272]
Short Name
[Dystrophin (DMD)]
Other Product Names
[Dystrophin; Dystrophin; dystrophin; dystrophin]
NCBI GI Number
313104240
NCBI Accession Number
P11532.3
Uniprot Accession Number
P11532
Available Sizes
Curated Selection
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