Gene Symbol | MYH9 |
Entrez Gene ID | 4627 |
Full Name | myosin heavy chain 9 |
Synonyms | BDPLT6,DFNA17,EPSTS,FTNS,MHA,NMHC-II-A,NMMHC-IIA,NMMHCA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | May-Hegglin anomaly, 155100 (3); Fechtner syndrome, 153640 (3); Sebastian syndrome, 605249 (3); Deafness, autosomal dominant 17, 603622 (3); Epstein syndrome, 153650 (3); Macrothrombocytopenia and progressive sensorineural deafness, 600208 (3) |