This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.
应用类型
WB, IF/ICC
免疫原
Recombinant fusion protein of human alpha Sarcoglycan (alpha Sarcoglycan (SGCA))(NP_000014.1).
