MYH9

(redirected from DFNA17)

MYH9

A gene on chromosome 22q13.1, which encodes a myosin IIA heavy chain that contains an IQ domain and a myosin head-like domain. It is
involved in cytokinesis, cell motility, maintaining cell shape and specialised functions, such as secretion and capping.

Molecular pathology
MYH9 mutations are linked to non-syndromic sensorineural deafness autosomal dominant type 17, Epstein syndrome, Alport syndrome with macrothrombocytopenia, Sebastian syndrome, Fechtner syndrome and macrothrombocytopenia with progressive sensorineural deafness.