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SGCD sarcoglycan delta

Also known as: SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta

Summary

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

Genomic context

Location:
5q33.2-q33.3
Sequence:
Chromosome: 5; NC_000005.10 (155728636..156767788)
Total number of exons:
14

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