MYH3

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.

Full Name

MYH3

Function

Muscle contraction.

Biological Process

Actin filament-based movement Source: UniProtKB
ATP metabolic process Source: BHF-UCL
Embryonic limb morphogenesis Source: BHF-UCL
Face morphogenesis Source: BHF-UCL
Muscle filament sliding Source: Reactome
Muscle organ development Source: ProtInc
Sarcomere organization Source: BHF-UCL
Skeletal muscle contraction Source: BHF-UCL

Involvement in disease

Arthrogryposis, distal, 2A (DA2A):
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and a H-shaped dimple of the chin.
Arthrogryposis, distal, 2B3 (DA2B3):
A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 2 is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. DA2B3 inheritance is autosomal dominant.
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A (CPSFS1A):
An autosomal dominant disease characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature. Progression of vertebral fusions has been observed, and inter- and intrafamilial variability has been reported.
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (CPSFS1B):
An autosomal recessive disease characterized by contractures affecting proximal and distal joints, vertebral fusions and scoliosis, carpal and tarsal fusions as well as webbing of the skin (pterygium) involving the neck, elbows, fingers, and/or knees. Other features include facial dysmorphism, short neck, and absent finger flexion creases. Inter- and intrafamilial variability has been observed.