Actinin Alpha 1 (ACTN1) Antibody

Background

ACTN1 encodes alpha-actinin-1, a member of the actin-binding protein family that plays a key role in cytoskeletal organization and cellular architecture. It is primarily expressed in non-muscle cells, where it functions as a crosslinker of actin filaments and regulates the assembly of the actin cytoskeleton. ACTN1 is involved in diverse cellular processes such as cell adhesion, migration, and signaling, contributing to tissue integrity and dynamic cellular responses. It is also implicated in the regulation of focal adhesions and mechanotransduction. Mutations in ACTN1 have been associated with autosomal dominant macrothrombocytopenia, characterized by abnormally large platelets and reduced platelet count, highlighting its role in platelet formation and function. Its interaction with actin filaments and various signaling proteins underscores its importance in maintaining cellular stability and enabling dynamic cellular behaviors.