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MYH9 is 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.
Gene Name: | myosin, heavy chain 9, non-muscle |
Synonyms: | MYH9, BDPLT6, FTNS, MHA, Myosin heavy chain 9, NMMHC-IIA, NMMHC-A, Myosin-9, NMMHC II-a, DFNA17, EPSTS, NMHC-II-A, NMMHCA |
Target Sequences: | NM_002473 NP_002464.1 P35579 |
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