Description
Product Characteristics:
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.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: 50 DAG, 50 kDa dystrophin associated glycoprotein, 50 kDa dystrophin-associated glycoprotein, 50DAG, 50kD DAG, 59 kDa, A2, adhalin, ADL, Alpha SG, Alpha-sarcoglycan, Alpha-SG, Asg, DAG2, DMDA2, Dystroglycan 2, Dystroglycan-2, LGMD2D, sarcoglycan, alpha (dystrophin-associated glycoprotein), SCARMD1, Sgca, SGCA_HUMAN.
Target Information: 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. [provided by RefSeq, Oct 2008]