Q13315

ATM is a crucial member of the phosphatidylinositol 3-kinase-related kinase (PIKK) family, distinguished by its complex structure that includes multiple HEAT repeats and a central kinase domain. This intricate architecture is essential for ATM′s role in orchestrating the cellular response to DNA double-strand breaks, facilitating DNA repair, cell cycle control, and apoptosis to maintain genomic stability. Understanding the structure of ATM is vital as ATM′s ability to interact with various substrates and regulatory proteins modulates critical signaling pathways involved in cellular homeostasis and stress responses. Mutations in the ATM gene are responsible for the autosomal recessive disorder ataxia telangiectasia, which is characterized by neurodegeneration, immune deficiencies, and an increased predisposition to cancer, highlighting ATM′s significance in normal cellular function and disease.