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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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.

References[edit | edit source]

External links[edit | edit source]

MYH9 Resources
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