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Myotilin

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== Disease ==
== Disease ==
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Mutations in myotilin cause myofibrillar myopathy<ref>PMID:15111675</ref>.
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Mutations in myotilin cause myofibrillar myopathy<ref>PMID:15111675</ref> and spheroid body myopathy<ref>PMID:16380616</ref>.

Revision as of 09:01, 4 May 2016

Template:STRUCTURE 2kdg

Contents

Function

Myotilin is a cytoskeletal protein expressed in skeletal and cardiac muscles. Myotilin C-terminal contails two Ig-like domains similar to titin[1]. See details in Group:MUZIC:Myotilin.

Disease

Mutations in myotilin cause myofibrillar myopathy[2] and spheroid body myopathy[3].


3D Structures of myotilin

Updated on 04-May-2016

2kkq - hMyotilin Ig-like C2-type 2 domain - human - NMR
2kdg - hMyotilin 1st Ig domain - NMR

References

  1. ↑ Salmikangas P, Mykkanen OM, Gronholm M, Heiska L, Kere J, Carpen O. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet. 1999 Jul;8(7):1329-36. PMID:10369880
  2. ↑ Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. PMID:15111675
  3. ↑ Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. A mutation in myotilin causes spheroid body myopathy. Neurology. 2005 Dec 27;65(12):1936-40. PMID:16380616 doi:10.1212/01.wnl.0000188872.28149.9a

Proteopedia Page Contributors and Editors (what is this?)

Michal Harel

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