non-muscle Myosin IIA est un gène codé par le symbole MYH9. Communément appelé aussi: Myosin-9; Cellular myosin heavy chain, type A; Myosin heavy chain 9; Myosin heavy chain, non-muscle IIa; Non-muscle myosin heavy chain A; NMMHC-A; Non-muscle myosin heavy chain IIa; NMMHC II-a; MYH9. non-muscle Myosin IIA a une masse de 226.53kDa, une longueur d'acide aminé de 1960, et est impliqué dans les maladies: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Deafness, autosomal dominant, 17.
Nous proposons 7 des anticorps contre non-muscle Myosin IIA, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.
Résumé Entrez
This gene encodes a conventional non-muscle myosin; this protein should not be confused with the unconventional myosin-9a or 9b (MYO9A or MYO9B). The encoded protein is a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain which is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in this gene have been associated with non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness.
Spécificité tissulaire
In the kidney, expressed in the glomeruli. Also expressed in leukocytes.
Implication dans la maladie
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss: 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.
Deafness, autosomal dominant, 17: A form of deafness characterized by progressive high frequency hearing impairment and cochleosaccular degeneration.
Similitudes de séquence
Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Modification post-traductionnelle
ISGylated.
Localisation cellulaire
Cytoplasm > Cytoskeleton. Cytoplasm > Cell cortex.
Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (PubMed:20052411). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (PubMed:27331610).
