Myotilin
From Proteopedia
(Difference between revisions)
| (2 intermediate revisions not shown.) | |||
| Line 1: | Line 1: | ||
| - | {{STRUCTURE_2kdg| PDB=2kdg | SIZE=400| SCENE= |right|CAPTION=Human myotilin 1st Ig domain NMR structure [[2kdg]] }} | ||
| - | '''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> | + | <StructureSection load='2kdg' size='350' side='right' caption='Human myotilin 1st Ig domain NMR structure (PDB entry [[2kdg]])' scene=''> |
| + | == 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> and spheroid body myopathy<ref>PMID:16380616</ref>. | ||
| + | </StructureSection> | ||
== 3D Structures of myotilin == | == 3D Structures of myotilin == | ||
Current revision
| |||||||||||
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
- ↑ 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
