Recombinant Human ACTN3 protein (His-DHFR tag N-Terminus)

Supplementary information

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

The ACTN3 protein also known as alpha-actinin-3 has a mechanical role in muscle function. This protein which weighs around 103 kDa is a structural component of the Z-disc in skeletal muscle fibers. It crosslinks actin filaments and stabilizes the sarcomere during muscle contraction and force transmission. ACTN3 is expressed in fast-twitch muscle fibers which are essential for rapid and forceful contractions.

Biological function summary

ACTN3 influences muscle performance and fiber type composition. As part of a complex it interacts with other proteins in the Z-disc helping maintain muscle integrity and function. The presence or absence of ACTN3 affects muscle strength power and endurance. Its expression level varies among individuals impacting their athletic performance capabilities.

Pathways

The ACTN3 protein plays a role in cellular pathways linked to muscle contraction and energy metabolism. It is involved in the regulation of the glycolysis pathway a critical energy source for fast-twitch muscles. ACTN2 a closely related protein can compensate for some functions of ACTN3 showing their interaction within these pathways. This functional relationship is important for maintaining muscle function under different metabolic conditions.

ACTN3 relates to muscular dystrophies and athletic performance capabilities. Individuals lacking functional ACTN3 due to a common null polymorphism may show differences in muscle power output impacting conditions like sarcopenia characterized by age-related muscle decline. The protein also associates with dystrophin in muscular disorders like Duchenne Muscular Dystrophy highlighting its importance in maintaining skeletal muscle health.