Target：Actinin-α3

Fields：Arrhythmogenic right ventricular cardiomyopathy

Gene Name：ACTN3

Protein Name：Alpha-actinin-3

Human Gene Id：89

Human Swiss Prot No：Q08043

Mouse Gene Id：11474

Mouse Swiss Prot No：O88990

Immunogen：The antiserum was produced against synthesized peptide derived from human ACTN3. AA range:1-50

Specificity：Actinin-α3 Polyclonal Antibody detects endogenous levels of Actinin-α3 protein.

Formulation：Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500 - 1:2000. IF 1:200 - 1:1000. ELISA: 1:20000. Not yet tested in other applications.

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：ACTN3;Alpha-actinin-3;Alpha-actinin skeletal muscle isoform 3;F-actin cross-linking protein

Observed Band(KD)：103kD

Background： 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：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.,

Subcellular Location：intracellular,cytosol,actin filament,brush border,focal adhesion,Z disc,pseudopodium,extracellular exosome,

Expression：Expressed only in a subset of type 2 skeletal muscle fibers.