MYH9
MYH9
MYH9 (pronounced as M-Y-H-Nine) is a gene that provides instructions for making a protein called nonmuscle myosin heavy chain IIA. This protein is a part of the myosin family, which are motor proteins that generate movement in cells. The etymology of MYH9 is derived from the words "Myosin Heavy chain 9".
Function
The MYH9 protein is involved in several important cellular functions, including cell division, cell movement, and the maintenance of cell shape. It is also essential for the formation of platelets, which are blood cell fragments that play a crucial role in blood clotting.
Disorders
Mutations in the MYH9 gene are associated with a group of conditions known as MYH9-related disorders. These disorders are characterized by large platelets and, often, hearing loss, cataracts, and kidney disease. The most common MYH9-related disorder is May-Hegglin anomaly, but other conditions include Sebastian syndrome, Fechtner syndrome, and Epstein syndrome.
Related Terms
- Myosin: A family of proteins that are involved in muscle contraction and other cellular functions.
- Platelets: Blood cell fragments that play a crucial role in blood clotting.
- May-Hegglin anomaly: A condition characterized by large platelets and often associated with hearing loss, cataracts, and kidney disease.
- Sebastian syndrome: A rare inherited disorder characterized by the presence of large platelets in the blood.
- Fechtner syndrome: A rare inherited disorder characterized by the presence of large platelets, hearing loss, and eye abnormalities.
- Epstein syndrome: A rare inherited disorder characterized by the presence of large platelets, hearing loss, and kidney disease.
External links
- Medical encyclopedia article on MYH9
- Wikipedia's article - MYH9
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