Aliases for SGCD Gene
External Ids for SGCD Gene
Previous GeneCards Identifiers for SGCD Gene
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]
GeneCards Summary for SGCD Gene
SGCD (Sarcoglycan Delta) is a Protein Coding gene. Diseases associated with SGCD include Muscular Dystrophy, Limb-Girdle, Type 2F and Cardiomyopathy, Dilated, 1L. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy. An important paralog of this gene is SGCZ.
UniProtKB/Swiss-Prot for SGCD Gene
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.