myosin heavy chain 7
Zuletzt aktualisiert 13 Apr 2026
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The MYH7 gene provides instructions for making a protein known as myosin-7. This protein is found in heart (cardiac) muscle and in certain skeletal muscles, which are the muscles used for movement. Specifically, myosin-7 is found in type I skeletal muscle fibers, which are also known as slow-twitch fibers. These fibers are the primary component of skeletal muscles that do not tire easily, such as the muscles involved in maintaining posture.
Normal function
The MYH7 gene provides instructions for making a protein known as myosin-7. This protein is found in heart (cardiac) muscle and in certain skeletal muscles, which are the muscles used for movement. Specifically, myosin-7 is found in type I skeletal muscle fibers, which are also known as slow-twitch fibers. These fibers are the primary component of skeletal muscles that do not tire easily, such as the muscles involved in maintaining posture.
Myosin-7 helps generate the mechanical force that is needed for muscles to contract. It combines with other proteins to form the thick filaments that are found within structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are composed of overlapping thick filaments and thin filaments. These thick and thin filaments undergo cycles of attachment and release, which allow the thin filaments to slide past the thick filaments. These movements shorten the sarcomere, which causes the muscle to contract. Regular contractions of cardiac muscle pump blood to the rest of the body, while the coordinated contraction and relaxation of skeletal muscles allow the body to move.
Conditions referring to this gene or chromosome
Other names
CMD1S
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Weiterführende Lektüre und Referenzen
- myosin heavy chain 7; MedlinePlus, National Library of Medicine.
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- Cimiotti D, Budde H, Hassoun R, Jaquet K. Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach. Int J Mol Sci. 2021 Jan 8;22(2):558. doi: 10.3390/ijms22020558.
- Claeys KG. Congenital myopathies: an update. Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2.
- Dong X, Fan P, Tian T, Yang Y, Xiao Y, Yang K, Liu Y, Zhou X. Recent advancements in the molecular genetics of left ventricular noncompaction cardiomyopathy. Clin Chim Acta. 2017 Feb;465:40-44. doi: 10.1016/j.cca.2016.12.013. Epub 2016 Dec 15.
- Finsterer J, Stollberger C, Towbin JA. Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors. Nat Rev Cardiol. 2017 Apr;14(4):224-237. doi: 10.1038/nrcardio.2016.207. Epub 2017 Jan 12.
- Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies. MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1.
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- Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. doi: 10.1086/424760. Epub 2004 Aug 20.
- Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. MYH7 variants cause complex congenital heart disease. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2.
- Rojanasopondist P, Nesheiwat L, Piombo S, Porter GA Jr, Ren M, Phoon CKL. Genetic Basis of Left Ventricular Noncompaction. Circ Genom Precis Med. 2022 Jun;15(3):e003517. doi: 10.1161/CIRCGEN.121.003517. Epub 2022 May 12.
- Tajsharghi H, Thornell LE, Lindberg C, Lindvall B, Henriksson KG, Oldfors A. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol. 2003 Oct;54(4):494-500. doi: 10.1002/ana.10693.
- Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004 Aug 4;44(3):602-10. doi: 10.1016/j.jacc.2004.04.039.
- Viswanathan MC, Tham RC, Kronert WA, Sarsoza F, Trujillo AS, Cammarato A, Bernstein SI. Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo. Hum Mol Genet. 2017 Dec 15;26(24):4799-4813. doi: 10.1093/hmg/ddx359.
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13 Apr 2026 | Neueste Version
1 Apr 2026 | Ursprünglich veröffentlicht
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