Myotilin

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Template:STRUCTURE 2kdg

Contents 1 Function 2 Disease 3 3D Structures of myotilin 4 References

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