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Myotilin
From Proteopedia
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{{STRUCTURE_2kdg| PDB=2kdg | SIZE=400| SCENE= |right|CAPTION=Human myotilin 1st Ig domain NMR structure [[2kdg]] }} | {{STRUCTURE_2kdg| PDB=2kdg | SIZE=400| SCENE= |right|CAPTION=Human myotilin 1st Ig domain NMR structure [[2kdg]] }} | ||
| + | == Function == | ||
| + | '''Myotilin''' is a cytoskeletal protein expressed in skeletal and cardiac muscles. Myotilin C-terminal contails two Ig-like domains similar to titin<ref>PMID:10369880</ref>. See details in [[Group:MUZIC:Myotilin]]. | ||
| - | + | == Disease == | |
| + | Mutations in myotilin cause myofibrillar myopathy<ref>PMID:15111675</ref>. | ||
Revision as of 08:59, 4 May 2016
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].
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
- ↑ 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
