Anti-Myosin, smooth muscle heavy chain 1 and 2 antibody [V/10] (ab77967)

Function

Muscle contraction.

Tissue specificity

Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea.

Involvement in disease

Note=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.
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.

Sequence similarities

Contains 1 IQ domain.
Contains 1 myosin head-like domain.

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.
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).

Cellular localization

Melanosome. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. Thick filaments of the myofibrils.

Alternative names

Database links