Myotilin

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Myotilin
Identifiers
Symbols MYOT ; LGMD1; TTID
External IDs OMIM: 604103 MGI1889800 HomoloGene4942
RNA expression pattern
PBB GE MYOT 219728 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 9499
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 58916

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000120729
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSMUSG00000024471

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q9UBF9
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| A0A509

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_006790 (mRNA)
NP_006781 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_001033621 (mRNA)
NP_001028793 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 5: 137.23 - 137.25 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr 18: 44.46 -  44.48 Mb 

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

WikiDoc Resources for Myotilin

Articles

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Review articles on Myotilin

Articles on Myotilin in N Eng J Med, Lancet, BMJ

Media

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Evidence Based Medicine

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Clinical Trials

Ongoing Trials on Myotilin at Clinical Trials.gov

Trial results on Myotilin

Clinical Trials on Myotilin at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Myotilin

NICE Guidance on Myotilin

NHS PRODIGY Guidance

FDA on Myotilin

CDC on Myotilin

Books

Books on Myotilin

News

Myotilin in the news

Be alerted to news on Myotilin

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Commentary

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Definitions

Definitions of Myotilin

Patient Resources / Community

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Patient Handouts on Myotilin

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Risk calculators and risk factors for Myotilin

Healthcare Provider Resources

Symptoms of Myotilin

Causes & Risk Factors for Myotilin

Diagnostic studies for Myotilin

Treatment of Myotilin

Continuing Medical Education (CME)

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International

Myotilin en Espanol

Myotilin en Francais

Business

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Experimental / Informatics

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Overview

Myotilin, also known as MYOT, is a human gene.[1]

Striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin (TTN; MIM 188840), a giant molecule that contains several immunoglobulin (Ig)-like domains and associates with thin and thick filaments, and alpha-actinin (ACTN1; MIM 102575), an actin cross-linking protein. Mutations in several sarcomeric and sarcolemmal proteins have been shown to result in muscular dystrophy and cardiomyopathy.[supplied by OMIM][1]

References

  1. 1.0 1.1 "Entrez Gene: MYOT myotilin".

Further reading

  • Speer MC, Yamaoka LH, Gilchrist JH; et al. (1992). "Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q". Am. J. Hum. Genet. 50 (6): 1211–7. PMID 1598902.
  • Dixon MJ, Read AP, Donnai D; et al. (1991). "The gene for Treacher Collins syndrome maps to the long arm of chromosome 5". Am. J. Hum. Genet. 49 (1): 17–22. PMID 1676560.
  • Bartoloni L, Horrigan SK, Viles KD; et al. (1999). "Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31". Genomics. 54 (2): 250–5. doi:10.1006/geno.1998.5579. PMID 9828127.
  • Salmikangas P, Mykkänen OM, Grönholm M; et al. (1999). "Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy". Hum. Mol. Genet. 8 (7): 1329–36. PMID 10369880.
  • Godley LA, Lai F, Liu J; et al. (1999). "TTID: A novel gene at 5q31 encoding a protein with titin-like features". Genomics. 60 (2): 226–33. doi:10.1006/geno.1999.5912. PMID 10486214.
  • Hauser MA, Horrigan SK, Salmikangas P; et al. (2000). "Myotilin is mutated in limb girdle muscular dystrophy 1A". Hum. Mol. Genet. 9 (14): 2141–7. PMID 10958653.
  • van der Ven PF, Wiesner S, Salmikangas P; et al. (2000). "Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin". J. Cell Biol. 151 (2): 235–48. PMID 11038172.
  • Hauser MA, Conde CB, Kowaljow V; et al. (2003). "myotilin Mutation found in second pedigree with LGMD1A". Am. J. Hum. Genet. 71 (6): 1428–32. PMID 12428213.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Salmikangas P, van der Ven PF, Lalowski M; et al. (2003). "Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly". Hum. Mol. Genet. 12 (2): 189–203. PMID 12499399.
  • Battle MA, Maher VM, McCormick JJ (2003). "ST7 is a novel low-density lipoprotein receptor-related protein (LRP) with a cytoplasmic tail that interacts with proteins related to signal transduction pathways". Biochemistry. 42 (24): 7270–82. doi:10.1021/bi034081y. PMID 12809483.
  • Selcen D, Engel AG (2004). "Mutations in myotilin cause myofibrillar myopathy". Neurology. 62 (8): 1363–71. PMID 15111675.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Witt SH, Granzier H, Witt CC, Labeit S (2005). "MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination". J. Mol. Biol. 350 (4): 713–22. doi:10.1016/j.jmb.2005.05.021. PMID 15967462.
  • Gontier Y, Taivainen A, Fontao L; et al. (2006). "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins". J. Cell. Sci. 118 (Pt 16): 3739–49. doi:10.1242/jcs.02484. PMID 16076904.
  • von Nandelstadh P, Grönholm M, Moza M; et al. (2005). "Actin-organising properties of the muscular dystrophy protein myotilin". Exp. Cell Res. 310 (1): 131–9. doi:10.1016/j.yexcr.2005.06.027. PMID 16122733.
  • Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Foroud T, Pankratz N, Batchman AP; et al. (2006). "A mutation in myotilin causes spheroid body myopathy". Neurology. 65 (12): 1936–40. doi:10.1212/01.wnl.0000188872.28149.9a. PMID 16380616.
  • Garvey SM, Senderek J, Beckmann JS; et al. (2006). "Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)". Ann. Hum. Genet. 70 (Pt 3): 414–6. doi:10.1111/j.1529-8817.2005.00252.x. PMID 16674563.
  • Pénisson-Besnier I, Talvinen K, Dumez C; et al. (2006). "Myotilinopathy in a family with late onset myopathy". Neuromuscul. Disord. 16 (7): 427–31. doi:10.1016/j.nmd.2006.04.009. PMID 16793270.


Cost Effectiveness of Myotilin

| group5 = Clinical Trials Involving Myotilin | list5 = Ongoing Trials on Myotilin at Clinical Trials.govTrial results on MyotilinClinical Trials on Myotilin at Google


| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Myotilin | list6 = US National Guidelines Clearinghouse on MyotilinNICE Guidance on MyotilinNHS PRODIGY GuidanceFDA on MyotilinCDC on Myotilin


| group7 = Textbook Information on Myotilin | list7 = Books and Textbook Information on Myotilin


| group8 = Pharmacology Resources on Myotilin | list8 = AND (Dose)}} Dosing of MyotilinAND (drug interactions)}} Drug interactions with MyotilinAND (side effects)}} Side effects of MyotilinAND (Allergy)}} Allergic reactions to MyotilinAND (overdose)}} Overdose information on MyotilinAND (carcinogenicity)}} Carcinogenicity information on MyotilinAND (pregnancy)}} Myotilin in pregnancyAND (pharmacokinetics)}} Pharmacokinetics of Myotilin


| group9 = Genetics, Pharmacogenomics, and Proteinomics of Myotilin | list9 = AND (pharmacogenomics)}} Genetics of MyotilinAND (pharmacogenomics)}} Pharmacogenomics of MyotilinAND (proteomics)}} Proteomics of Myotilin


| group10 = Newstories on Myotilin | list10 = Myotilin in the newsBe alerted to news on MyotilinNews trends on Myotilin


| group11 = Commentary on Myotilin | list11 = Blogs on Myotilin

| group12 = Patient Resources on Myotilin | list12 = Patient resources on MyotilinDiscussion groups on MyotilinPatient Handouts on MyotilinDirections to Hospitals Treating MyotilinRisk calculators and risk factors for Myotilin


| group13 = Healthcare Provider Resources on Myotilin | list13 = Symptoms of MyotilinCauses & Risk Factors for MyotilinDiagnostic studies for MyotilinTreatment of Myotilin

| group14 = Continuing Medical Education (CME) Programs on Myotilin | list14 = CME Programs on Myotilin

| group15 = International Resources on Myotilin | list15 = Myotilin en EspanolMyotilin en Francais

| group16 = Business Resources on Myotilin | list16 = Myotilin in the MarketplacePatents on Myotilin

| group17 = Informatics Resources on Myotilin | list17 = List of terms related to Myotilin


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