Gene Symbol | MYH3 |
Entrez Gene ID | 4621 |
Full Name | myosin heavy chain 3 |
Synonyms | DA2A,DA2B,DA8,HEMHC,MYHC-EMB,MYHSE1,SMHCE |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Arthrogryposis, distal, type 2A, 193700 (3); Arthrogryposis, distal, type 2B, 601680 (3); Arthrogryposis, distal, type 8, 178110 (3) |