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. Note: This description may include information from UniProtKB.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Molecular Function: actin 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; structural constituent of muscle; thyroid hormone receptor coactivator activity; titin binding
Biological Process: actin filament uncapping; activation of MAPKK activity; axon guidance; blood coagulation; cardiac muscle cell development; cell adhesion; epidermal growth factor receptor signaling pathway; fibroblast growth factor receptor signaling pathway; focal adhesion formation; innate immune response; insulin receptor signaling pathway; MAPKKK cascade; microspike biogenesis; muscle filament sliding; negative regulation of potassium ion transport; nerve growth factor receptor signaling pathway; platelet activation; platelet degranulation; positive regulation of potassium ion transport; protein homotetramerization; Ras protein signal transduction; regulation of apoptosis; regulation of membrane potential; sarcomere organization; small GTPase mediated signal transduction; synaptic transmission; vascular endothelial growth factor receptor signaling pathway
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.