Synonyms: 156DAG,A3a,AGRNR,Alpha dystroglycan,Alpha-DG,Beta-DG,Beta-dystroglycan,DAG,Dag1,DAG1,Dystroglycan 1 (dystrophin associated glycoprotein 1),Dystroglycan,Dystrophin associated glycoprotein 1,Dystrophin-associated glycoprotein 1,OTTHUMP00000210857,OTTHUMP00000210858
Background: This gene encodes dystroglycan, a central component of dystrophin-glycoprotein complex that links the extracellular matrix and the cytoskeleton in the skeletal muscle. The encoded preproprotein undergoes O- and N-glycosylation, and proteolytic processing to generate alpha and beta subunits. Certain mutations in this gene are known to cause distinct forms of muscular dystrophy. Alternative splicing results in multiple transcript variants, all encoding the same protein.