Myosin-11 is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It is a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.

Mar 30, 2025 · MYH11 (Myosin Heavy Chain 11) is a Protein Coding gene. Diseases associated with MYH11 include Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 and Aortic Aneurysm, Familial Thoracic 4 . Among its related pathways are Semaphorin interactions and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases .

The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. It belongs to a group of proteins called myosins, which are involved in cell movement and the transport of materials within and between cells.

Myosin heavy chain 11 (MYH11), which is encoded by the MYH11 gene, is a smooth muscle myosin belonging to the myosin heavy chain family (3). MYH11 is a contractile protein that slides past actin filaments to induce muscle contraction via adenosine triphosphate hydrolysis (4, 5).

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome. A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus.

Aug 15, 2024 · Smooth muscle cell-specific myosin heavy chain, encoded by MYH11, is selectively expressed in smooth muscle cells (SMCs). Pathogenic variants in MYH11 predispose to a number of disorders, including heritable thoracic aortic disease associated with ...

MYH11 gene duplications are associated with thoracic aortic dissections whereas deletions are associated with a recessive nonvascular syndrome. Physicians should be aware that MYH11 copy number variants are often misannotated in clinical genetic testing for …

The MYH11 gene contains 41 exons and is located on chromosome 16p13.13-p13.12. Causative mutations can be identified in approximately 18% of individuals with TAAD. Mutations in ACTA2 account for the majority of cases (14%), while mutations in TGFBR2 and TGFBR1 account for 2.5% and 1%, respectively. Mutations in MYH11 have been identified

Background: Genomic duplications involving the smooth muscle myosin heavy chain gene, MYH11, are associated with increased risk for acute aortic dissections. Results: MYH11 overexpression causes increased turnover of contractile proteins through increased autophagy.

Jul 22, 2021 · HGNC Approved Gene Symbol: MYH11. Cytogenetic location: 16p13.11 Genomic coordinates (GRCh38) : 16:15,703,135-15,857,028 (from NCBI) Matsuoka et al. (1991, 1993) isolated a smooth muscle myosin heavy-chain gene from a human cDNA library.