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) is a Protein Coding gene. Diseases associated with ACTN3 include Actn3 Deficiency and Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency. Among its related pathways are Remodeling of Adherens Junctions and Cardiac conduction. 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.