MYH11

Description

The MYH11 gene provides instructions for making a protein called myosin heavy chain 11, a crucial component of muscle fibers. This protein plays a vital role in muscle contraction, allowing us to move, breathe, and perform everyday activities. Mutations in the MYH11 gene can lead to a range of health issues, primarily impacting muscle function and development.

Associated Diseases

• Familial hypertrophic cardiomyopathy (HCM)
• Dilated cardiomyopathy (DCM)
• Congenital myopathy
• Charcot-Marie-Tooth disease (CMT)
• Centronuclear myopathy
• Spinal muscular atrophy (SMA)
• Ehlers-Danlos syndrome (EDS)
• Myosin heavy chain disease
• Other muscle disorders

Did you know?

MYH11 is one of the largest genes in the human genome, spanning over 300,000 base pairs.