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.
