Mutations in the insulin receptor gene

Simeon I. Taylor*, Alessandro Cama, Domenico Accili, Fabrizio Barbetti, Michael J. Quon, Maria De La Luz Sierra, Yoshifumi Suzuki, Elizabeth Koller, Rachel Levy-Toledano, Efrat Wertheimer, Victoria Y. Moncada, Hiroko Kadowaki, Takashi Kadowaki

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

291 Scopus citations


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 (1–3). Over the past two decades, considerable progress has been made in defining the structure of the receptor molecule (4–7) as well as the biochemical mechanism by which it mediates insulin action (8–10). In addition, the insulin receptor has been identified as a target for pathological processes in human disease. In this review, we describe mutations in the insulin receptor gene that have been identified in patients with genetic forms of insulin resistance (6). Identification of these mutations has elucidated the molecular mechanisms that cause disease in these patients. In addition, the mutations have provided significant insights into the structure and function of the insulin receptor.

Original languageEnglish
Pages (from-to)566-595
Number of pages30
JournalEndocrine Reviews
Issue number3
StatePublished - Aug 1992
Externally publishedYes


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