myosin heavy chain 3
Última actualización 17 Abr 2023
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The MYH3 gene provides instructions for making a protein called myosin-3. This protein belongs to a group of proteins called myosins, which are involved in movement and the transport of materials within and between cells. In addition, muscle fibers are primarily composed of thick filaments made of myosin and thin filaments of another protein called actin. Thick and thin filaments are involved in muscle tensing (contraction). Muscle fibers containing myosin-3 are found primarily in the fetus before birth, and they are important for early development of the muscles.
Normal function
The MYH3 gene provides instructions for making a protein called myosin-3. This protein belongs to a group of proteins called myosins, which are involved in movement and the transport of materials within and between cells. In addition, muscle fibers are primarily composed of thick filaments made of myosin and thin filaments of another protein called actin. Thick and thin filaments are involved in muscle tensing (contraction). Muscle fibers containing myosin-3 are found primarily in the fetus before birth, and they are important for early development of the muscles.
Myosins function when they are part of a group (complex). Each myosin complex consists of two pairs of myosin light chains (produced from other genes), which regulate the complex, and one pair of myosin heavy chains such as that produced from the MYH3 gene. The heavy chains each have two parts: a head region and a tail region. The head region interacts with actin, which allows the thick and thin filaments to move relative to one another so that muscles can contract. The head region also includes a segment that attaches (binds) to ATP, which is a molecule that supplies energy for cells' activities, including muscle contraction. The long tail region of the myosin heavy chain interacts with other proteins, including the tail regions of other myosins, to form thick filaments.
Conditions referring to this gene or chromosome
Otros nombres
HEMHC
muscle embryonic myosin heavy chain
MYH3_HUMAN
MYHC-EMB
MYHSE1
myosin heavy chain, fast skeletal muscle, embryonic
myosin, heavy chain 3, skeletal muscle, embryonic
myosin, heavy polypeptide 3, skeletal muscle, embryonic
myosin, skeletal, heavy chain, embryonic 1
myosin-3
SMHCE
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Lecturas adicionales y referencias
- myosin heavy chain 3; MedlinePlus, National Library of Medicine.
- Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A. 2013 Mar;161A(3):550-5. doi: 10.1002/ajmg.a.35809. Epub 2013 Feb 7.
- Carapito R, Goldenberg A, Paul N, Pichot A, David A, Hamel A, Dumant-Forest C, Leroux J, Ory B, Isidor B, Bahram S. Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome. Eur J Hum Genet. 2016 Dec;24(12):1746-1751. doi: 10.1038/ejhg.2016.84. Epub 2016 Jul 6.
- Oldfors A, Lamont PJ. Thick filament diseases. Adv Exp Med Biol. 2008;642:78-91. doi: 10.1007/978-0-387-84847-1_7.
- Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis. 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2.
- Racca AW, Beck AE, McMillin MJ, Korte FS, Bamshad MJ, Regnier M. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet. 2015 Jun 15;24(12):3348-58. doi: 10.1093/hmg/ddv084. Epub 2015 Mar 3.
- Schiaffino S, Rossi AC, Smerdu V, Leinwand LA, Reggiani C. Developmental myosins: expression patterns and functional significance. Skelet Muscle. 2015 Jul 15;5:22. doi: 10.1186/s13395-015-0046-6. eCollection 2015.
- Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol. 2008 Aug;65(8):1083-90. doi: 10.1001/archneur.65.8.1083.
- Toydemir RM, Bamshad MJ. Sheldon-Hall syndrome. Orphanet J Rare Dis. 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11.
- Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet. 2006 May;38(5):561-5. doi: 10.1038/ng1775. Epub 2006 Apr 16.
- Walklate J, Vera C, Bloemink MJ, Geeves MA, Leinwand L. The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects. J Biol Chem. 2016 May 6;291(19):10318-31. doi: 10.1074/jbc.M115.707489. Epub 2016 Mar 4.
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