Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor |
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| Authors: | M Odawara T Kadowaki R Yamamoto Y Shibasaki K Tobe D Accili C Bevins Y Mikami N Matsuura Y Akanuma |
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| Affiliation: | Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Japan. |
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| Abstract: | Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site fo adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity. |
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