MYH2
Domain
The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils.
Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).
Function
Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.
Involvement in disease
Congenital myopathy 6 with ophthalmoplegia
CMYO6
A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Cellular localization
- Cytoplasm
- Myofibril
- Thick filaments of the myofibrils.
Alternative names
MYHSA2, MYH2, Myosin-2, Myosin heavy chain 2, Myosin heavy chain 2a, Myosin heavy chain IIa, MyHC-2a, MyHC-IIa