ACTN3 Antibody – Rabbit Polyclonal

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]

ACTN3: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Belongs to the alpha-actinin family.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 11q13.1

Cellular Component: actin filament; cytosol; focal adhesion; intracellular; pseudopodium

Molecular Function: actin binding; calcium ion binding; integrin binding; protein binding; protein homodimerization activity; structural constituent of muscle

Biological Process: focal adhesion formation; muscle filament sliding; negative regulation of glycolysis; positive regulation of skeletal muscle growth; regulation of apoptosis; 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