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DMD
DystrophinBMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
Top validated antibodies |
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| Proteintech Group |  12715-1-AP |
10 references | Polyclonal |
WB
EL
ICC
IP
IHC
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| Invitrogen Antibodies | PA1-37587 |
12 references | Polyclonal |
WB
IHC
OA
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| GeneTex | GTX15277 |
13 references | Polyclonal |
WB
ICC
IHC
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| Novus Biologicals | NB120-7164 |
6 references | Monoclonal |
EL
ICC
IHC
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| NovoPro Bioscience Inc. | 110149 |
Polyclonal |
WB
EL
ICC
IP
IHC
|
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