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