Entrez gene ID | | 4621 |
Official gene symbol | | MYH3 |
Full name | | myosin, heavy chain 3, skeletal muscle, embryonic |
Aliases | | ,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. [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17p13.1 |
Gene position | | 10560615 - 10531843 Map Viewer |
Gene orientation | | minus |
Gene size | | 28773 bp |
Gene sequence |
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OMIM ID | | 160720 |