DTNA

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DTNA
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases DTNA, D18S892E, DRP3, DTN, DTN-A, LVNC1, dystrobrevin alpha
External IDs MGI: 106039 HomoloGene: 20362 GeneCards: 1837
RNA expression pattern
PBB GE DTNA 208430 s at tn.png

PBB GE DTNA 210736 x at tn.png

PBB GE DTNA 211493 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)

NP_001272736.1
NP_001272739.1
NP_001272746.1
NP_034217.2

Location (UCSC) Chr 18: 34.49 – 34.89 Mb Chr 18: 23.42 – 23.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

Mutations in DTNA are associated to Meniere's disease .[4] [5]

Interactions[edit]

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

See also[edit]

References[edit]

  1. ^ Khurana TS, Engle EC, Bennett RR, Silverman GA, Selig S, Bruns GA, Kunkel LM (Oct 1994). "(CA) repeat polymorphism in the chromosome 18 encoded dystrophin-like protein". Hum Mol Genet 3 (5): 841. doi:10.1093/hmg/3.5.841-a. PMID 8081380. 
  2. ^ Sjö A, Magnusson KE, Peterson KH (Apr 2005). "Association of alpha-dystrobrevin with reorganizing tight junctions". J Membr Biol 203 (1): 21–30. doi:10.1007/s00232-004-0728-1. PMID 15834686. 
  3. ^ a b "Entrez Gene: DTNA dystrobrevin, alpha". 
  4. ^ Lopez-Escamez JA, Carey J, Chung WH, et al. Diagnostic criteria for Ménière's disease. J Vest Res 2015;25(1):1–7. PMID 25882471 Free full text
  5. ^ Requena T, Cabrera S, Martín-Sierra C, Price SD, Lysakowski A, Lopez-Escamez JA (2014). "Identification of two novel mutations in FAM136A and DTNA genes in autosomal dominant familial Meniere's disease". Human Molecular Genetics. doi:10.1093/hmg/ddu524. PMID 25305078. 
  6. ^ Sadoulet-Puccio HM, Rajala M, Kunkel LM (Nov 1997). "Dystrobrevin and dystrophin: An interaction through coiled-coil motifs". Proc. Natl. Acad. Sci. U.S.A. 94 (23): 12413–8. doi:10.1073/pnas.94.23.12413. PMC 24974. PMID 9356463. 

Further reading[edit]