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Official Full Name: dystrophin
Also known as: BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
The gene has a genome length 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 connects the intracellular cytoskeleton and extracellular matrix. Deletions, duplications, and point mutations at this locus may result in Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Different promoter usage and different splicing lead to many different transcript variants and protein isoforms of this gene.
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