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DTNA / Dystrobrevin Alpha 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.
Gene Name: | dystrobrevin, alpha |
Synonyms: | DTNA, Alpha-dystrobrevin, DTN-2, DRP3, DTN, DTN-3, Dystrobrevin, alpha, DTN-1, DTN-A, LVNC1, D18S892E, Dystrobrevin alpha, Dystrophin-related protein 3 |
Target Sequences: | NM_001391 NP_001382.2 Q9Y4J8 |
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