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.
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Required for cortical actin clearance prior to oocyte exocytosis (By similarity). Promotes cell motility in conjunction with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411).
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
MATINS
An autosomal dominant disorder characterized by thrombocytopenia, giant platelets and Dohle body-like inclusions in peripheral blood leukocytes with variable ultrastructural appearance. Some affected individuals lack leukocyte inclusion bodies on classic staining of peripheral blood smears. Alport syndrome-like features of nephritis, hearing loss, and eye abnormalities are present in some patients.
None
The disease is caused by variants affecting the gene represented in this entry.
Deafness, autosomal dominant, 17
DFNA17
A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.
None
The disease is caused by variants affecting the gene represented in this entry.
Subjects with mutations in the motor domain of MYH9 present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. The clinical course of patients with mutations in the four most frequently affected residues of MYH9 (responsible for 70% of MYH9-related cases) were evaluated. Mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures.
Genetic variations in MYH9 are associated with non-diabetic end stage renal disease (ESRD).
ISGylated.
Ubiquitination.
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
Proteins
226532Da
We found 19 products in 2 categories
ab236073
Anti-non-muscle Myosin IIA antibody [EPR8965] - BSA and Azide free