Dystrophin (DMD)
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Function
- may play a role in anchoring the cytoskeleton to the plasma membrane
- interacts with the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 & SNTG2
- interacts with KRT19
- interacts with SYNM
- part of dystrophin associated protein complex (DPC) which includes:
- dystroglycan complex: alpha & beta dystroglycans
- sarcoglycan complex: alpha, beta, gamma & delta sarcoglycan
- sarcospan
- syntrophin
- alpha-dystrobrevin
- nNOS
- SAPK3
- SAST (syntrophin associated serine/threonine kinase)
- skeletal muscle voltage gated sodium channels
- intermediate filament proteins
- aquaporin 4
- dystroglycan ligands include:
- in non-muscle tissue, alpha-neurexin & erbB4 are also associated with components of the DPC
Structure
- contains 2 CH (calponin-homology) domains
- contains 22 spectrin repeats
- contains 1 WW domain
- contains 1 ZZ-type Zn+2 finger
Compartment
Alternative splicing
named isoforms=5 Additional isoforms seem to exist
Expression
- expressed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma
- expressed in brain, muscle, kidney, lung & testis
- isoform 5 is expressed in heart, brain, liver, testis & hepatoma cells
- most tissues contain transcripts of multiple isoforms
- only isoform 5 is detected in heart & liver
Pathology
- mutations associated with
Notes
- the DMD gene is the largest known gene in humans;
- it is 2.4 million base-pairs in size
- comprises 79 exons
- takes > 16 hours to be transcribed & cotranscriptionally spliced
More general terms
Additional terms
- Becker muscular dystrophy
- Duchenne muscular dystrophy (pseudohypertrophic)
- dystrophin, DMD or BMD gene
References
- ↑ Bar S et al A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 272:557 1990 PMID: https://www.ncbi.nlm.nih.gov/pubmed/2176467
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1756
- ↑ Blake DJ & Martin-Rendon E Intermediate filaments and the function of the dystrophin-protein complex. Trends Cardiovasc Med 12(5):224-8, 2002 PMID: https://www.ncbi.nlm.nih.gov/pubmed/12161077
- ↑ Michele DE & Campbell KP Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem 278(18):15457-60, 2003 PMID: https://www.ncbi.nlm.nih.gov/pubmed/12556455
- ↑ Tidball J, 9th Annual UCLA Research Conference on Aging, June 17, 2004 (conference speaker)
- ↑ UniProt http://www.uniprot.org/uniprot/P11532.html
- ↑ DMD; Note: Dystrophin mutation Database http://www.dmd.nl/database.html
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=DMD
- ↑ SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=DMD
- ↑ Wikipedia; Dystrophin entry http://en.wikipedia.org/wiki/Dystrophin