Gene MYH11
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Also known as
myosin heavy chain 11, smooth muscle myosin heavy chain, SMMHC, AAT4Overview
MYH11 (Myosin Heavy Chain 11) encodes smooth muscle myosin heavy chain, the motor protein responsible for contraction in smooth muscle cells lining blood vessels, the gastrointestinal tract, and other organs. This protein generates the force needed for blood vessel contraction and maintenance of vascular tone throughout the body.Mutations in MYH11 cause familial thoracic aortic aneurysms and dissections (TAAD), a condition where the wall of the aorta weakens and can rupture or tear. MYH11 mutations result in defective smooth muscle contraction, leading to progressive dilation and potentially life-threatening aortic events. Patent ductus arteriosus is also associated with MYH11 mutations.
Understanding your MYH11 genetic status provides critical insights into aortic disease risk. This information is particularly important for individuals with family history of aortic aneurysms or dissections, enabling early imaging surveillance and preventive management.