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: Motility/polarity/chemotaxis; Cytoskeletal

Chromosomal Location of Human Ortholog: 1q42-q43

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

Molecular Function: actin filament binding; calcium ion binding; cytoskeletal protein binding; FATZ binding; identical protein binding; integrin binding; LIM domain binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding; protein dimerization activity; protein domain specific binding; protein homodimerization activity; Ras guanyl-nucleotide exchange factor activity; structural constituent of muscle; thyroid hormone receptor coactivator activity; titin binding

Biological Process: actin filament uncapping; cardiac muscle cell development; cell adhesion; focal adhesion formation; MAPKKK cascade; microspike biogenesis; muscle filament sliding; negative regulation of potassium ion transport; platelet degranulation; positive regulation of GTPase activity; positive regulation of potassium ion transport; protein homotetramerization; regulation of apoptosis; regulation of membrane potential; sarcomere organization

Disease: Cardiomyopathy, Dilated, 1aa