Aliases for ACTN3 Gene
External Ids for ACTN3 Gene
Previous GeneCards Identifiers for ACTN3 Gene
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, Feb 2014]
GeneCards Summary for ACTN3 Gene
ACTN3 (Actinin Alpha 3 (Gene/Pseudogene)) is a Protein Coding gene. Diseases associated with ACTN3 include Actn3 Deficiency and Glycogen Storage Disease V. Among its related pathways are Cell adhesion_Endothelial cell contacts by junctional mechanisms and Sertoli-Sertoli Cell Junction Dynamics. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding. An important paralog of this gene is ACTN2.
UniProtKB/Swiss-Prot Summary for ACTN3 Gene
F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.