MYH3
Protein-coding gene in the species Homo sapiens
01Function
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, Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
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- Ideogram human chromosome 17.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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