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 represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]

Actinin Alpha 3 (Gene/Pseudogene)

F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

Focal adhesion assembly
Muscle filament sliding
Negative regulation of calcineurin-NFAT signaling cascade
Negative regulation of cold-induced thermogenesis
Negative regulation of glycolytic process
Negative regulation of oxidative phosphorylation
Positive regulation of glucose catabolic process to lactate via pyruvate
Positive regulation of skeletal muscle tissue growth
Regulation of aerobic respiration
Regulation of apoptotic process
Regulation of the force of skeletal muscle contraction
Response to denervation involved in regulation of muscle adaptation
Skeletal muscle atrophy
Transition between fast and slow fiber

Actin filament; Cytosol; Extracellular exosome; Focal adhesion