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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Alpha-dystrobrevin; DTN-A; Dystrobrevin alpha; dystrobrevin alpha, pseudogene 1; dystrobrevin, alpha; Dystrophin-related protein 3
基因别名: 2210407P21Rik; a-DB-1; adbn; D18S892E; DRP3; DTN; DTN-A; DTNA; Dtna-ps1; Gm19389; LVNC1; RGD1561985
UniProt ID: (Human) Q9Y4J8, (Mouse) Q9D2N4
Entrez Gene ID: (Human) 1837, (Rat) 307548, (Mouse) 13527