{"symbol":"ACTN3","synonyms":["ACTN3D"],"name":"actinin, alpha 3 (gene/pseudogene)","description":"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 represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Apr 2024]","ncbiEntrezGeneId":89,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/89","proteins":[{"symbol":"ACTN3_HUMAN","href":"/api/1.0/protein/ACTN3_HUMAN"}],"hgncRootFamilies":[]}