MYH11 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The gene encoding a human ortholog of rat NUDE1 is transcribed from the reverse strand of this gene, and its 3' end overlaps with that of the latter. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. Alternative splicing generates isoforms that are differentially expressed, with ratios changing during muscle cell maturation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

MYH11: Muscle contraction. 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 familial aortic aneurysm thoracic type 4 (AAT4); 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis; Oncoprotein; Motor

Chromosomal Location of Human Ortholog: 16p13.11

Cellular Component: smooth muscle contractile fiber; melanosome; stress fiber; muscle myosin complex; cytosol

Molecular Function: calmodulin binding; actin filament binding; protein binding; structural constituent of muscle; motor activity; ATP binding

Biological Process: muscle thick filament assembly; elastic fiber assembly; axon guidance; smooth muscle contraction; muscle contraction; metabolic process; cardiac muscle fiber development; ephrin receptor signaling pathway

Disease: Aortic Aneurysm, Familial Thoracic 4