ACTN2 Antibody – Rabbit Polyclonal

Alpha actinins belong to the spectrin gene superfamily which represents a diverse group of cytoskeletal proteins, including the alpha and beta spectrins and dystrophins. Alpha actinin is an actin-binding protein with multiple roles in different cell types. In nonmuscle cells, the cytoskeletal isoform is found along microfilament bundles and adherens-type junctions, where it is involved in binding actin to the membrane. In contrast, skeletal, cardiac, and smooth muscle isoforms are localized to the Z-disc and analogous dense bodies, where they help anchor the myofibrillar actin filaments. This gene encodes a muscle-specific, alpha actinin isoform that is expressed in both skeletal and cardiac muscles. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2013]

ACTN2: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein. Defects in ACTN2 are the cause of cardiomyopathy dilated type 1AA (CMD1AA). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Belongs to the alpha-actinin family.

Protein type: Cytoskeletal; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 1q42-q43

Cellular Component: cortical actin cytoskeleton; focal adhesion; cytoskeleton; extracellular region; dendritic spine; actin filament; pseudopodium; Z disc; cytosol; filopodium

Molecular Function: actin filament binding; integrin binding; protein dimerization activity; identical protein binding; protein binding; LIM domain binding; structural constituent of muscle; cytoskeletal protein binding; titin binding; calcium ion binding; FATZ binding; thyroid hormone receptor coactivator activity

Biological Process: focal adhesion formation; platelet activation; negative regulation of potassium ion transport; positive regulation of potassium ion transport; protein homotetramerization; muscle filament sliding; regulation of apoptosis; synaptic transmission; regulation of membrane potential; platelet degranulation; microspike biogenesis; blood coagulation; cell adhesion

Disease: Cardiomyopathy, Dilated, 1aa