Function
Nebulin is an actin-binding protein which can bind upto 200 actin molecules. Nebulin length is proportional to the length of the thin filament. It may function as a regulator of thin filament length during sarcomere assembly[1].
For more details see Group:MUZIC:Nebulin.
Disease
Mutations in nebulin were identified in patients with nemaline myopathy[2].
3D structures of nebulin
Updated on 11-July-2023
1neb – hNebulin SH3 domain residues 918-977 – human - NMR
1ark – hNebulin SH3 domain residues 6610-6669 - NMR
7qin – mNebulin in actomyosin complex – mouse – Cryo EM
7qim – mNebulin + actin – Cryo EM
References
- ↑ Labeit S, Ottenheijm CA, Granzier H. Nebulin, a major player in muscle health and disease. FASEB J. 2011 Mar;25(3):822-9. doi: 10.1096/fj.10-157412. Epub 2010 Nov 29. PMID:21115852 doi:http://dx.doi.org/10.1096/fj.10-157412
- ↑ Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, Carvalho M, Fireman MA, Zanoteli E, Oliveira AS, Zatz M, Wallgren-Pettersson C, Labeit S, Vainzof M. Nebulin expression in patients with nemaline myopathy. Neuromuscul Disord. 2001 Mar;11(2):154-62. PMID:11257471
