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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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.
The research findings will also advance future research into the mechanisms wherein abnormalities in the protein encoded by MYH9 affect the normal filtering function of the kidney, and thereby could lead to the development of new methods for treating and preventing terminal kidney failure," Skorecki added.
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].
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
Mutations of MYH9, encoding for non-muscle myosin heavy chain A, in May Hegglin anomaly.
Mutations in the MYH9 gene encoding for the nonmuscle myosin heavy chain IIA result in a spectrum of macrothrombocytopenia disorders with neutrophil inclusions referred to as MYH9 disorders.
MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.