Myosin heavy chain 3 (MYH3)

Myosin heavy chain 3 (MYH3) is a motor protein that is a major contractile protein in embryonic skeletal muscle, where it converts chemical energy from ATP hydrolysis into mechanical force, driving muscle contraction. MYH3 is specifically expressed during muscle development and is a critical regulator of myogenesis, influencing muscle fiber size, fiber type, and differentiation through both cell-autonomous and non-cell-autonomous mechanisms, the latter partly via fibroblast growth factor (FGF) signaling. Pathogenic variants in MYH3 cause congenital contracture syndromes such as Freeman-Sheldon syndrome, Sheldon-Hall syndrome, and spondylocarpotarsal synostosis, which are characterized by joint contractures, scoliosis, and other musculoskeletal abnormalities. Inhibition of downstream pathways, such as YAP signaling, has shown preclinical benefit in models of MYH3-deficient disease.

Other names

Myosin-3MYHC-EMBMYHSE1HEMHCSMHCEMuscle embryonic myosin heavy chainMyosin heavy chain, fast skeletal muscle, embryonicMyosin, skeletal, heavy chain, embryonic 1Myosin heavy polypeptide 3, skeletal muscle, embryonicCPSFS1ACPSFS1BCPSKF1ACPSKF1BDA2AMYH3_HUMANMyosin, heavy chain 3, skeletal muscle, embryonic

Indirect: Targeting downstream YAP signaling pathway linked to MYH3-mutant phenotypes