Anti-Myotilin antibody

Supplementary info

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

Activity summary

Myotilin also referred to as TTID is a protein weighing approximately 57 kDa. It plays an important role in the structural stability of muscle cells. This protein localizes mainly in striated muscle including both skeletal and cardiac muscle tissues. Myotilin's primary function includes the interaction with actin filaments within the sarcomeric Z-disc where it acts as an anchor maintaining the integrity of these actin filament arrays during muscle contraction and relaxation.

Biological function summary

Myotilin contributes to the organization and function of the sarcomere the basic contractile unit of muscle fibers. It forms part of a molecular complex including proteins such as alpha-actinin and filamin C. This complex orchestrates the assembly of thin filaments ensuring proper alignment and force transduction in muscle cells. Myotilin’s presence assures that the muscle's contractile elements remain strong and aligned necessary for effective muscle performance.

Pathways

Myotilin's participation is significant in the integrin signaling and muscle contraction pathways. Through these pathways it helps in maintaining cellular adhesion and signal transmission enabling effective muscle function. It interacts closely with proteins such as dystrophin and talin which also partake in stabilizing muscular cell membranes and facilitating signal coordination for muscle contraction to occur efficiently.

Associated diseases and disorders

The mutations in myotilin are linked to myopathies particularly limb-girdle muscular dystrophy and myofibrillar myopathy. These disorders cause progressive muscle weakness and degeneration. Myotilin shares pathological connections with proteins like desmin where disruptions can lead to disorganized muscle fibers and compromised muscle integrity resulting in disease phenotype. Understanding these associations aids in the development of therapeutic strategies targeting these muscular disorders.