Human Actinin Alpha 2 (ACTN2) CLIA Kit

Background

ACTN2 encodes alpha-actinin-2, a muscle-specific isoform of the actinin family, expressed predominantly in cardiac and skeletal muscle tissues. It functions as a structural component of the sarcomere, anchoring actin filaments to the Z-discs and contributing to the maintenance of sarcomere integrity during muscle contraction. ACTN2 also plays a role in signal transduction by interacting with a variety of signaling and cytoskeletal proteins, modulating muscle development and repair. Mutations in ACTN2 are associated with cardiomyopathies, including hypertrophic and dilated cardiomyopathy, where impaired sarcomeric organization leads to reduced cardiac function. Its critical role in sarcomere structure and interaction with signaling pathways highlights its importance in maintaining muscle function and responding to mechanical stress.