The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
Protein Aliases: Alpha-dystrobrevin; DTN-A; Dystrobrevin alpha; dystrobrevin, alpha; Dystrophin-related protein 3
Gene Aliases: D18S892E; DRP3; DTN; DTN-A; DTNA; LVNC1
UniProt ID: (Human) Q9Y4J8
Entrez Gene ID: (Human) 1837
Molecular Function: ubiquitin-protein ligase