Aliases for MYH9 Gene
External Ids for MYH9 Gene
Previous HGNC Symbols for MYH9 Gene
Previous GeneCards Identifiers for MYH9 Gene
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. [provided by RefSeq, Dec 2011]
GeneCards Summary for MYH9 Gene
MYH9 (Myosin Heavy Chain 9) is a Protein Coding gene. Diseases associated with MYH9 include Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss and Deafness, Autosomal Dominant 17. Among its related pathways are Signaling by GPCR and Immune response CCR3 signaling in eosinophils. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is MYH10.
UniProtKB/Swiss-Prot Summary for MYH9 Gene
Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (By similarity). 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 (PubMed:20052411).
Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.