MYH2

Description

The MYH2 gene encodes for the alpha heavy chain of myosin II, a crucial protein responsible for muscle contraction. Located on chromosome 17, MYH2 plays a vital role in various muscle types, including skeletal, cardiac, and smooth muscle. Mutations in MYH2 can lead to a spectrum of inherited muscle disorders, affecting muscle strength, function, and overall health.

Associated Diseases

• Hypertrophic Cardiomyopathy (HCM)
• Dilated Cardiomyopathy (DCM)
• Myofibrillar Myopathy
• Centronuclear Myopathy
• Congenital Fiber Type Deficiency (CFTD)
• Nemaline Myopathy
• Myotonic Dystrophy

Did you know?

Mutations in MYH2 are known to be associated with increased risk of sudden cardiac death, particularly in individuals with hypertrophic cardiomyopathy.