Name

DMD Gene

dystrophin

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]

DMD-AS3 Gene

DMD antisense RNA 3

CMD1K Gene

cardiomyopathy, dilated 1K (autosomal dominant)

CMD1H Gene

cardiomyopathy, dilated 1H (autosomal dominant)

CMD1F Gene

cardiomyopathy, dilated 1F (autosomal dominant)

CMD1B Gene

cardiomyopathy, dilated 1B (autosomal dominant)

CMD1Q Gene

cardiomyopathy, dilated 1Q (autosomal dominant)