Anti-ACTN3

This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status. Protein function: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. [The UniProt Consortium]