Biology:Dystrobrevin alpha
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Short description: Protein found in humans
 Generic protein structure example |
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.[3]
Clinical significance
Mutations in DTNA are associated with Ménière's disease.[4][5]
Interactions
Dystrobrevin has been shown to interact with dystrophin.[6]
References
- ↑ "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein". Hum Mol Genet 3 (5): 841. Oct 1994. doi:10.1093/hmg/3.5.841-a. PMID 8081380.
- ↑ "Association of alpha-dystrobrevin with reorganizing tight junctions". J Membr Biol 203 (1): 21–30. Apr 2005. doi:10.1007/s00232-004-0728-1. PMID 15834686.
- ↑ 3.0 3.1 "Entrez Gene: DTNA dystrobrevin, alpha". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=1837.
- ↑ "Diagnostic criteria for Menière's disease". J Vestib Res 25 (1): 1–7. 2015. doi:10.3233/VES-150549. PMID 25882471.
- ↑ "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics 24 (4): 1119–26. 2014. doi:10.1093/hmg/ddu524. PMID 25305078.
- ↑ "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. Nov 1997. doi:10.1073/pnas.94.23.12413. PMID 9356463. Bibcode: 1997PNAS...9412413S.
Further reading
- "Muscular dystrophies and the dystrophin-glycoprotein complex". Current Opinion in Neurology 10 (2): 168–75. 1997. doi:10.1097/00019052-199704000-00016. PMID 9146999.
- "From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy". Muscle Nerve 21 (4): 421–38. 1998. doi:10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B. PMID 9533777.
- "Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy?". Neuromuscul. Disord. 12 (Suppl 1): S110–7. 2002. doi:10.1016/S0960-8966(02)00091-3. PMID 12206805.
- "Syntrophin binds to an alternatively spliced exon of dystrophin". J. Cell Biol. 128 (3): 363–71. 1995. doi:10.1083/jcb.128.3.363. PMID 7844150.
- "The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives". J. Biol. Chem. 271 (5): 2724–30. 1996. doi:10.1074/jbc.271.5.2724. PMID 8576247.
- "Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein". J. Biol. Chem. 271 (13): 7802–10. 1996. doi:10.1074/jbc.271.13.7802. PMID 8631824.
- "Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane". Hum. Mol. Genet. 5 (4): 489–96. 1996. doi:10.1093/hmg/5.4.489. PMID 8845841.
- "Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene". Genomics 39 (3): 359–69. 1997. doi:10.1006/geno.1996.4515. PMID 9119373.
- "Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy". Hum. Mol. Genet. 6 (7): 1185–91. 1997. doi:10.1093/hmg/6.7.1185. PMID 9215691.
- "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. 1997. doi:10.1073/pnas.94.23.12413. PMID 9356463. Bibcode: 1997PNAS...9412413S.
- "β-dystrobrevin, a member of the dystrophin-related protein family". Proc. Natl. Acad. Sci. U.S.A. 95 (1): 241–6. 1998. doi:10.1073/pnas.95.1.241. PMID 9419360. Bibcode: 1998PNAS...95..241B.
- "Characterisation of alpha-dystrobrevin in muscle". J. Cell Sci. 111 (17): 2595–605. 1999. doi:10.1242/jcs.111.17.2595. PMID 9701558. http://edoc.unibas.ch/2773/1/2595.full.pdf.
- "Different Dystrophin-like Complexes Are Expressed in Neurons and Glia". J. Cell Biol. 147 (3): 645–58. 1999. doi:10.1083/jcb.147.3.645. PMID 10545507.
- "The genomic organization of human dystrobrevin". Neurogenetics 1 (1): 37–42. 2000. doi:10.1007/s100480050006. PMID 10735273.
- "Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells". J. Biol. Chem. 275 (21): 15851–60. 2000. doi:10.1074/jbc.M000439200. PMID 10747910.
- "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. 2000. doi:10.1093/hmg/9.7.1033. PMID 10767327.
- "Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex". FEBS Lett. 471 (2–3): 229–34. 2000. doi:10.1016/S0014-5793(00)01400-9. PMID 10767429.
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