myotilin
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The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. Myotilin is found within Z-discs, where it binds with other proteins to help organize and stabilize the sarcomeres. The organisation of sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.
Normal function
The MYOT gene provides instructions for making a protein called myotilin. Myotilin is found in heart (cardiac) muscle and in the muscles used for movement (skeletal muscle). Within muscle fibers, structures called sarcomeres generate the force needed for muscles to contract. Sarcomeres are linked together by structures called Z-discs to form myofibrils, which are the basic units of muscle fibers. Myotilin is found within Z-discs, where it binds with other proteins to help organize and stabilize the sarcomeres. The organisation of sarcomeres and myofibrils provides the strength and stability that is needed during repeated cycles of muscle contraction and relaxation.
Conditions referring to this gene or chromosome
Otros nombres
TTID
Lecturas adicionales y referencias
- myotilin; MedlinePlus, National Library of Medicine.
- Ferrer I, Olive M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med. 2008 Sep 3;10:e25. doi: 10.1017/S1462399408000793.
- Fichna JP, Maruszak A, Zekanowski C. Myofibrillar myopathy in the genomic context. J Appl Genet. 2018 Nov;59(4):431-439. doi: 10.1007/s13353-018-0463-4. Epub 2018 Sep 10.
- Maerkens A, Olive M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Guttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schroder R, Schoser B, van der Ven PF, Furst DO, Vorgerd M, Marcus K, Kley RA. New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses. Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0.
- Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol. 2020 Dec 1;39(4):245-265. doi: 10.36185/2532-1900-028. eCollection 2020 Dec.
- Schroder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol. 2009 Jul;19(3):483-92. doi: 10.1111/j.1750-3639.2009.00289.x.
- Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology. 2004 Apr 27;62(8):1363-71. doi: 10.1212/01.wnl.0000123576.74801.75.
- von Nandelstadh P, Soliymani R, Baumann M, Carpen O. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. Biochem J. 2011 May 15;436(1):113-21. doi: 10.1042/BJ20101672.
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