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词条 DTNA
释义

  1. Function

  2. Clinical significance

  3. Interactions

  4. See also

  5. References

  6. Further reading

{{Infobox_gene}}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 to {{SWL|type=mutations_associated_to|target=Meniere's disease|label=Meniere's disease}}.[4][5]

Interactions

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

See also

  • Dystrobrevin

References

1. ^{{cite journal | vauthors = Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM | title = (CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein | journal = Hum Mol Genet | volume = 3 | issue = 5 | pages = 841 | date = Oct 1994 | pmid = 8081380 | pmc = | doi = 10.1093/hmg/3.5.841-a }}
2. ^{{cite journal | vauthors = Sjö A, Magnusson KE, Peterson KH | title = Association of alpha-dystrobrevin with reorganizing tight junctions | journal = J Membr Biol | volume = 203 | issue = 1 | pages = 21–30 | date = Apr 2005 | pmid = 15834686 | pmc = | doi = 10.1007/s00232-004-0728-1 }}
3. ^1 {{cite web | title = Entrez Gene: DTNA dystrobrevin, alpha| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1837| accessdate = }}
4. ^{{cite journal | url = http://content.iospress.com/download/journal-of-vestibular-research/ves00549?id=journal-of-vestibular-research%2Fves00549 | pmid = 25882471 | doi=10.3233/VES-150549 | volume=25 | issue = 1 | title=Diagnostic criteria for Menière's disease | year=2015 | journal=J Vestib Res | pages=1–7 | vauthors=Lopez-Escamez JA, Carey J, Chung WH, Goebel JA, Magnusson M, Mandalà M, Newman-Toker DE, Strupp M, Suzuki M, Trabalzini F, Bisdorff A}}
5. ^{{cite journal | vauthors = Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA | title = Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease | journal = Human Molecular Genetics | year = 2014 | pmid = 25305078 | doi = 10.1093/hmg/ddu524 | volume=24 | issue = 4 | pages=1119–26 | pmc=4834881}}
6. ^{{cite journal | vauthors = Sadoulet-Puccio HM, Rajala M, Kunkel LM | title = Dystrobrevin and dystrophin: An interaction through coiled-coil motifs | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 94 | issue = 23 | pages = 12413–8 | date = Nov 1997 | pmid = 9356463 | pmc = 24974 | doi = 10.1073/pnas.94.23.12413 }}
{{Clear}}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors = Straub V, Campbell KP | title = Muscular dystrophies and the dystrophin-glycoprotein complex | journal = Current Opinion in Neurology | volume = 10 | issue = 2 | pages = 168–75 | year = 1997 | pmid = 9146999 | doi = 10.1097/00019052-199704000-00016 }}
  • {{cite journal | vauthors = Ozawa E, Noguchi S, Mizuno Y, Hagiwara Y, Yoshida M | title = From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy | journal = Muscle Nerve | volume = 21 | issue = 4 | pages = 421–38 | year = 1998 | pmid = 9533777 | doi = 10.1002/(SICI)1097-4598(199804)21:4<421::AID-MUS1>3.0.CO;2-B }}
  • {{cite journal | vauthors = Blake DJ | title = Dystrobrevin dynamics in muscle-cell signalling: a possible target for therapeutic intervention in Duchenne muscular dystrophy? | journal = Neuromuscul. Disord. | volume = 12 Suppl 1 | issue = | pages = S110–7 | year = 2002 | pmid = 12206805 | doi = 10.1016/S0960-8966(02)00091-3 }}
  • {{cite journal | vauthors = Ahn AH, Kunkel LM | title = Syntrophin binds to an alternatively spliced exon of dystrophin | journal = J. Cell Biol. | volume = 128 | issue = 3 | pages = 363–71 | year = 1995 | pmid = 7844150 | pmc = 2120343 | doi = 10.1083/jcb.128.3.363 }}
  • {{cite journal | vauthors = Ahn AH, Freener CA, Gussoni E, Yoshida M, Ozawa E, Kunkel LM | title = The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives | journal = J. Biol. Chem. | volume = 271 | issue = 5 | pages = 2724–30 | year = 1996 | pmid = 8576247 | doi = 10.1074/jbc.271.5.2724 }}
  • {{cite journal | vauthors = Blake DJ, Nawrotzki R, Peters MF, Froehner SC, Davies KE | title = Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein | journal = J. Biol. Chem. | volume = 271 | issue = 13 | pages = 7802–10 | year = 1996 | pmid = 8631824 | doi = 10.1074/jbc.271.13.7802 }}
  • {{cite journal | vauthors = Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM | title = Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane | journal = Hum. Mol. Genet. | volume = 5 | issue = 4 | pages = 489–96 | year = 1996 | pmid = 8845841 | doi = 10.1093/hmg/5.4.489 }}
  • {{cite journal | vauthors = Ambrose HJ, Blake DJ, Nawrotzki RA, Davies KE | title = Genomic organization of the mouse dystrobrevin gene: comparative analysis with the dystrophin gene | journal = Genomics | volume = 39 | issue = 3 | pages = 359–69 | year = 1997 | pmid = 9119373 | doi = 10.1006/geno.1996.4515 }}
  • {{cite journal | vauthors = Metzinger L, Blake DJ, Squier MV, Anderson LV, Deconinck AE, Nawrotzki R, Hilton-Jones D, Davies KE | title = Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy | journal = Hum. Mol. Genet. | volume = 6 | issue = 7 | pages = 1185–91 | year = 1997 | pmid = 9215691 | doi = 10.1093/hmg/6.7.1185 }}
  • {{cite journal | vauthors = Sadoulet-Puccio HM, Rajala M, Kunkel LM | title = Dystrobrevin and dystrophin: An interaction through coiled-coil motifs | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 94 | issue = 23 | pages = 12413–8 | year = 1997 | pmid = 9356463 | pmc = 24974 | doi = 10.1073/pnas.94.23.12413 }}
  • {{cite journal | vauthors = Blake DJ, Nawrotzki R, Loh NY, Górecki DC, Davies KE | title = β-dystrobrevin, a member of the dystrophin-related protein family | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 95 | issue = 1 | pages = 241–6 | year = 1998 | pmid = 9419360 | pmc = 18188 | doi = 10.1073/pnas.95.1.241 }}
  • {{cite journal | vauthors = Nawrotzki R, Loh NY, Ruegg MA, Davies KE, Blake DJ | title = Characterisation of alpha-dystrobrevin in muscle | journal = J. Cell Sci. | volume = 111 | issue = 17 | pages = 2595–605 | year = 1999 | pmid = 9701558 | doi = }}
  • {{cite journal | vauthors = Blake DJ, Hawkes R, Benson MA, Beesley PW | title = Different Dystrophin-like Complexes Are Expressed in Neurons and Glia | journal = J. Cell Biol. | volume = 147 | issue = 3 | pages = 645–58 | year = 1999 | pmid = 10545507 | pmc = 2151186 | doi = 10.1083/jcb.147.3.645 }}
  • {{cite journal | vauthors = Sadoulet-Puccio HM, Feener CA, Schaid DJ, Thibodeau SN, Michels VV, Kunkel LM | title = The genomic organization of human dystrobrevin | journal = Neurogenetics | volume = 1 | issue = 1 | pages = 37–42 | year = 2000 | pmid = 10735273 | doi = 10.1007/s100480050006 }}
  • {{cite journal | vauthors = Piluso G, Mirabella M, Ricci E, Belsito A, Abbondanza C, Servidei S, Puca AA, Tonali P, Puca GA, Nigro V | title = Gamma1- and gamma2-syntrophins, two novel dystrophin-binding proteins localized in neuronal cells | journal = J. Biol. Chem. | volume = 275 | issue = 21 | pages = 15851–60 | year = 2000 | pmid = 10747910 | doi = 10.1074/jbc.M000439200 }}
  • {{cite journal | vauthors = Yoshida M, Hama H, Ishikawa-Sakurai M, Imamura M, Mizuno Y, Araishi K, Wakabayashi-Takai E, Noguchi S, Sasaoka T, Ozawa E | title = Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy | journal = Hum. Mol. Genet. | volume = 9 | issue = 7 | pages = 1033–40 | year = 2000 | pmid = 10767327 | doi = 10.1093/hmg/9.7.1033 }}
  • {{cite journal | vauthors = Tommasi di Vignano A, Di Zenzo G, Sudol M, Cesareni G, Dente L | title = Contribution of the different modules in the utrophin carboxy-terminal region to the formation and regulation of the DAP complex | journal = FEBS Lett. | volume = 471 | issue = 2–3 | pages = 229–34 | year = 2000 | pmid = 10767429 | doi = 10.1016/S0014-5793(00)01400-9 }}
{{refend}}{{Muscle tissue}}{{gene-18-stub}}
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