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).
Muscle contraction. Required for cytoskeleton organization (By similarity).
Myopathy, proximal, with ophthalmoplegia
MYPOP
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.
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Proteins
223044Da
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