Actinin-α3 Rabbit Polyclonal Antibody

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], function:F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein., polymorphism:About 18% of the world population lack a functional ACTN3 due to a stop codon polymorphism at position 577. The absence of a functional ACTN3 expression is not correlated with a disease state., sequence caution:According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population., similarity:Belongs to the alpha-actinin family., similarity:Contains 1 actin-binding domain., similarity:Contains 2 CH (calponin-homology) domains., similarity:Contains 2 EF-hand domains., similarity:Contains 4 spectrin repeats., subunit:Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1., tissue specificity:Expressed only in a subset of type 2 skeletal muscle fibers.

Focal adhesion; Adherens_Junction; Adherens_Junction; Leukocyte transendothelial migration; Regulates Actin and Cytoskeleton; Systemic lupus erythematosus; Arrhythmogenic right ventricular cardiomyopathy (ARVC)