Bio Background |
This gene encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. The protein is involved in several important functions, including cytokinesis, cell motility and maintenance of cell shape. Defects in MYH9 are the cause of non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness. |
Bio References |
Arii, J., et al. Nature 467(7317):859-862(2010) Genovese, G., et al. Kidney Int. 78(7):698-704(2010) Tzur, S., et al. Hum. Genet. 128(3):345-350(2010) Bostrom, M.A., et al. Hum. Genet. 128(2):195-204(2010) Oleksyk, T.K., et al. PLoS ONE 5 (7), E11474 (2010) : |