AHNAK is a giant scaffold protein with a molecular weight of about 700 kDa. Previous studies have found that AHNAK can mediate a series of physiological activities through protein-protein interactions, including the regulation of cardiac calcium homeostasis, adipocyte differentiation, the formation and repair of the membrane structure, etc. In this article, recent advances in the biological characteristics and functions of AHNAK, as well as the related diseases, such as cardiovascular diseases, metabolic diseases and tumors, are reviewed, aiming to comprehensively explore and understand the characteristics of AHNAK and its role in associated diseases, which will help to clarify the function of AHNAK and provide theoretical basis for its translational research in diseases.