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: cytoskeletal protein binding; FATZ binding; identical protein binding; integrin 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; titin binding
Biological Process: actin filament uncapping; cell adhesion; focal adhesion formation; MAPKKK cascade; microspike biogenesis; muscle filament sliding; negative regulation of potassium ion transport; platelet degranulation; positive regulation of potassium ion transport; protein homotetramerization; regulation of membrane potential; sarcomere organization
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.