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]
- Heart process
- Muscle organ development
- Calcium-mediated signaling
- Cellular protein-containing complex localization
- Cardiac muscle tissue development
- Muscular dystrophy, limb-girdle, autosomal recessive 6
- Cardiomyopathy, dilated, 1l
- Autosomal recessive limb-girdle muscular dystrophy type 2f
- Familial isolated dilated cardiomyopathy
- Limb-girdle muscular dystrophy
Gene Location
