Disease:A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv (16) (p13;q22) . The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11. ,Disease:Defects in MYH11 are the cause of aortic aneurysm familial thoracic type 4 (AAT4) [MIM:132900]; also known as familial thoracic aortic aneurysm and dissection (TAAD) . Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers , loss of smooth muscle cells , and an accumulation of basophilic ground substance. Patients with AAT4 show marked aortic stiffness. Pathological aortas show large areas of medial degeneration with very low smooth muscle cells content. ,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. ,Function:Muscle contraction. ,miscellaneous:Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM) . It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2) . ,similarity:Contains 1 IQ domain. ,similarity:Contains 1 myosin head-like domain. ,subcellular location:Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils. ,subunit:Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC) , 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2) . ,tissue specificity:Smooth muscle; expressed in the umbilical artery , bladder , esophagus and trachea. ,
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