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The insulin receptor is a cell surface glycoprotein that mediates the action of insulin upon target cells. The receptor was originally identified by its ability to bind the hormone. Over the past two decades, considerable progress has been made in defining the structure of the receptor molecule as well as the biochemical mechanism by which it mediates insulin action. In addition, the insulin receptor has been identified as a target for pathological processes in human disease. Identification of mutations has elucidated the molecular mechanisms that cause disease in patients. In addition, the mutations have provided significant in sights into the structure and function of the insulin receptor. This book reports all the known mutations in insulin receptor gene and its clinical significance.