Dystrobrevin alpha explained

Dystrobrevin alpha is a protein that in humans is encoded by the DTNA gene.[1] [2] [3]

Function

The protein encoded by this gene belongs to the dystrobrevin subfamily and the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC). The DPC 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. This protein may be involved in the formation and stability of synapses as well as the clustering of nicotinic acetylcholine receptors. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.

Clinical significance

Mutations in DTNA are associated with Ménière's disease.[4] [5]

Interactions

Dystrobrevin has been shown to interact with dystrophin.[6]

References

Further reading

Notes and References

  1. Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM . (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein . Hum Mol Genet . 3 . 5 . 841 . Oct 1994 . 8081380 . 10.1093/hmg/3.5.841-a .
  2. Sjö A, Magnusson KE, Peterson KH . Association of alpha-dystrobrevin with reorganizing tight junctions . J Membr Biol . 203 . 1 . 21–30 . Apr 2005 . 15834686 . 10.1007/s00232-004-0728-1 . 371967 .
  3. Web site: Entrez Gene: DTNA dystrobrevin, alpha.
  4. 25882471 . 10.3233/VES-150549 . 25 . 1 . Diagnostic criteria for Menière's disease . 2015 . J Vestib Res . 1–7 . Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A. free .
  5. Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA . Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease . Human Molecular Genetics . 2014 . 25305078 . 10.1093/hmg/ddu524 . 24 . 4 . 1119–26 . 4834881.
  6. Sadoulet-Puccio HM, Rajala M, Kunkel LM . Dystrobrevin and dystrophin: An interaction through coiled-coil motifs . . 94 . 23 . 12413–8 . Nov 1997 . 9356463 . 24974 . 10.1073/pnas.94.23.12413 . free . 1997PNAS...9412413S .