Gene: MYH3
Alternate names for this Gene: CPSFS1A|CPSFS1B|CPSKF1A|CPSKF1B|DA2A|DA2B|DA2B3|DA8|HEMHC|MYHC-EMB|MYHSE1|SMHCE
Gene Summary: 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 is located in Chromosome: 17
Location in Chromosome : 17p13.1
Description of this Gene: myosin heavy chain 3
Type of Gene: protein-coding