Entrez gene ID | | 1837 |
Official gene symbol | | DTNA |
Full name | | dystrobrevin, alpha |
Aliases | | ,D18S892E,DRP3,DTN,DTN-A,FLJ96209,LVNC1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: 18 Locus: 18q12 |
Gene position | | 32073254 - 32471808 Map Viewer |
Gene orientation | | plus |
Gene size | | 398555 bp |
Gene sequence |
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OMIM ID | | 601239 |
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