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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.
Gene Name: | myosin, heavy chain 3, skeletal muscle, embryonic |
Synonyms: | MYH3, HEMHC, SMHCE, MYHC-EMB, MYHSE1, Myosin heavy chain 3, Myosin-3 |
Target Sequences: | NM_002470 NP_002461.2 P11055 |
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