TNNT1

Description

The TNNT1 gene encodes for troponin T1, a crucial protein involved in the regulation of cardiac muscle contraction. Troponin T1 is part of the troponin complex, which binds to tropomyosin and actin filaments within the sarcomere, the basic unit of muscle contraction. Upon calcium binding, troponin T1 undergoes a conformational change that allows for the interaction of actin and myosin, initiating the muscle contraction cycle. This intricate interplay is vital for the heart‘s ability to pump blood effectively throughout the body.

Associated Diseases

• Hypertrophic Cardiomyopathy (HCM)
• Dilated Cardiomyopathy (DCM)
• Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
• Sudden Cardiac Death (SCD)

Did you know?

Mutations in the TNNT1 gene are a significant cause of inherited heart diseases, particularly hypertrophic cardiomyopathy. These mutations can disrupt the proper function of troponin T1, leading to abnormal muscle contraction and an increased risk of heart failure.