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SGCD

Official Full Name
sarcoglycan delta
Organism
Homo sapiens
GeneID
6444
Background
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]
Synonyms
SGD; DAGD; 35DAG; CMD1L; SGCDP; LGMDR6; SG-delta;

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