AMN : amnion associated transmembrane protein
Description
The AMN gene, also known as the alpha-actinin-3 gene, plays a vital role in muscle function, particularly in fast-twitch muscle fibers. It encodes for a protein called alpha-actinin-3, which acts as a structural component of the Z-disc, a crucial part of the sarcomere, the basic unit of muscle contraction. Alpha-actinin-3 helps in connecting and stabilizing actin filaments, ensuring proper muscle contraction and force generation. Variations in the AMN gene can influence athletic performance, muscle strength, and susceptibility to certain muscular disorders.
Associated Diseases
Did you know?
A common variation in the AMN gene leads to the absence of alpha-actinin-3 protein, affecting about 18% of the global population. This variant is associated with improved endurance performance in some individuals.
