Aliases for ACTN3 Gene
External Ids 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 dystrophinopathies and mcardle disease. Among its related pathways are Regulation of actin cytoskeleton and ERK Signaling. GO annotations related to this gene include calcium ion binding and actin binding.
UniProtKB/Swiss-Prot 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