MYH9


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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.
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References in periodicals archive ?
The findings were the result of analyzing markers in the MYH9 gene in a group of 1,425 African American and Hispanic American subjects, including dialysis patients and control healthy subjects.
MYH9 gene-related disorders are a group of autosomal dominant thrombocytopenias with large platelets in the newborn, and the affected siblings develop hearing loss, cataracts and glomerulonephritis [5].
Mutations of MYH9, encoding for non-muscle myosin heavy chain A, in May Hegglin anomaly.
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.