| 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].
- ↑ 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
- ↑ Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. PMID:15111675
- ↑ 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
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3D Structures of myotilin
Updated on 17-August-2017
2kkq - hMyotilin Ig-like C2-type 2 domain - human - NMR
2kdg - hMyotilin 1st Ig domain - NMR
References
