MYH9

MYH9 is a gene that encodes the non-muscle myosin heavy chain IIA protein. This protein is a major component of the contractile apparatus of the cell and is involved in various cellular processes such as cell motility, adhesion, and cytokinesis. Mutations in the MYH9 gene are associated with several autosomal dominant disorders, collectively known as MYH9-related disorders.

Function

The MYH9 gene provides instructions for making a protein called non-muscle myosin heavy chain IIA. This protein is found throughout the body and is involved in many cellular processes, including cell movement (motility), cell shape, and the division of cells (cytokinesis). The protein is also important for the formation of platelets, which are small cell fragments involved in blood clotting.

Clinical significance

Mutations in the MYH9 gene are associated with several related conditions, collectively known as MYH9-related disorders. These conditions are characterized by large platelets (macrothrombocytopenia); hearing loss; eye abnormalities; kidney disease; and/or changes in skin coloring (pigmentation). The specific features vary among affected individuals, even among members of the same family.

MYH9-related disorders

MYH9-related disorders include May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome. These conditions were once thought to be distinct disorders but are now considered to be part of the same condition spectrum because they are all caused by mutations in the MYH9 gene.

See also

• Non-muscle myosin
• Macrothrombocytopenia
• May-Hegglin anomaly
• Sebastian syndrome
• Fechtner syndrome
• Epstein syndrome

External links

• MYH9 at Genetics Home Reference
• MYH9 at National Center for Biotechnology Information