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SGCD / Delta-Sarcoglycan 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.
Gene Name: | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) |
Synonyms: | SGCD, 35DAG, Delta-SG, Placental delta sarcoglycan, LGMD2F, SGCDP, SGD, SG-delta, CMD1L, DAGD, Delta-sarcoglycan |
Target Sequences: | NM_000337 NP_000328.2 Q92629 |
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