|Application ||WB, IHC|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||103241 Da|
|Other Names||Alpha-actinin-3, Alpha-actinin skeletal muscle isoform 3, F-actin cross-linking protein, ACTN3|
|Target/Specificity||A synthetic peptide corresponding to residues on the N-terminus of human alpha-actinin 3 was used as an immunogen.|
|Format||50 mM Tris-Glycine (pH 7.4), 0.15 M NaCl, 40% Glycerol, 0.01% sodium azide and 0.05% BSA.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Alpha-Actinin-3 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.|
|Tissue Location||Expressed only in a subset of type 2 skeletal muscle fibers.|
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Provided below are standard protocols that you may find useful for product applications.
The alpha-actinins are a multigene family of four actin-binding proteins related to dystrophin. The two skeletal muscle isoforms of alpha-actinin (ACTN2 and ACTN3) are major structural components of the Z-line involved in anchoring the actin-containing thin filaments. In humans, ACTN2 is expressed in all muscle fibres, while ACTN3 expression is restricted to a subset of type 2 fibers. Absence of alpha-actinin-3 is not associated with an obvious disease phenotype, raising the possibility that ACTN3 is functionally redundant in humans, and that alpha-actinin-2 is able to compensate for alpha-actinin-3 deficiency (1). Alpha-Actinin-3 is specifically expressed in fast-twitch myofibers responsible for generating force at high velocity. The absence of a disease phenotype secondary to alpha-actinin-3 deficiency is likely due to compensation by the homologous protein, alpha-actinin-2. However, the high degree of evolutionary conservation of ACTN3 suggests function(s) independent of ACTN2. Highly significant associations between ACTN3 genotype and athletic performance have been demonstrated in both male and female athletes.
1. Mills M, et al. Hum Mol Genet 10(13):1335-46, 2001 2. Yang N, et al. Am J Hum Genet 73(3):627-31, 2003
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