Anti-Titin antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Titin also known by its full name connectin is a giant protein that plays an essential mechanical role in muscle contraction. It is the largest known protein with a molecular mass of approximately 3800 kDa. Titin is expressed mainly in cardiac and skeletal muscle tissues where it functions as a molecular spring. It provides structural support and stability to the sarcomere which is the basic contractile unit of muscle tissues.

Biological function summary

This protein titin contributes significantly to the elasticity and extensibility of the muscle. Titin is an integral part of the thick filament in muscle fibers and interacts directly with actin and myosin linking them together. It belongs to the muscle protein complex forming the backbone around which other proteins assemble. Titin allows muscles to maintain passive tension and recoil after stretching contributing to muscle elasticity during contraction.

Pathways

Several important functions depend on the intricate arrangement of titin within the sarcomere structure. Titin is involved in the regulatory pathways of muscle assembly and integrity. An important pathway includes the mechanical signaling pathway where titin acts alongside proteins like myosin-binding protein C. Titin also contributes to muscle protein turnover by interacting with ubiquitin-proteasome pathway components though it primarily serves as a scaffold for other molecules within these complex pathways.

Associated diseases and disorders

Mutations in the titin gene associate with a range of debilitating conditions especially cardiomyopathy and muscular dystrophy. In particular dilated cardiomyopathy often results from titin mutations affecting the heart muscle's function. Proteins like myosin can become dysregulated when titin function is compromised further contributing to the disorder's pathology. Investigating these connections helps reveal how alterations in titin impact muscle-related diseases.