TTN

Description

The TTN gene, coding for the protein titin, is a colossal player in the world of muscle and heart function. Its massive size, making it the largest known human gene, reflects its critical role in maintaining the structural integrity and elasticity of muscle fibers. Titin acts like a molecular spring, providing passive tension and regulating the contraction of muscles, especially in the heart. Mutations in the TTN gene can lead to a range of muscular and cardiac disorders, underscoring its essential role in human health.

Associated Diseases

• Dilated Cardiomyopathy (DCM)
• Hypertrophic Cardiomyopathy (HCM)
• Congenital Myopathies
• Limb-Girdle Muscular Dystrophy (LGMD)
• Facioscapulohumeral Muscular Dystrophy (FSHD)

Did you know?

The TTN gene is so large that it spans over 360,000 base pairs and contains 363 exons, making it the largest known protein-coding gene in humans.