Myosin-3 is a protein that in humans is encoded by the MYH3gene.[5][6]
Function
Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes,[7]Freeman–Sheldon syndrome and Sheldon–Hall syndrome.[6]
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Hundley AF, Yuan L, Visco AG (May 2006). "Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse". American Journal of Obstetrics and Gynecology. 194 (5): 1404–10. doi:10.1016/j.ajog.2006.01.049. PMID16579921.
Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ (May 2006). "Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome". Nature Genetics. 38 (5): 561–5. doi:10.1038/ng1775. PMID16642020. S2CID8226091.
