P-14: Mutational analysis of the insulin receptor: Arginine 86 plays an essential role in insulin binding and stimulation of glucose transport

Nicola Longo; Sharon D. Langley; Maria J. Still; Louis J. Elsas

doi:10.1055/s-0029-1211557

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Exp Clin Endocrinol Diabetes 1996; 104: 78-80
DOI: 10.1055/s-0029-1211557

Part III — Posters

Receptor Structure and Function
© J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York

P-14: Mutational analysis of the insulin receptor: Arginine 86 plays an essential role in insulin binding and stimulation of glucose transport

Nicola Longo, Sharon D. Langley, Maria J. Still, Louis J. Elsas

Division of Medical Genetics, Dept. Pediatrics, Emory University, Atlanta, GA, USA

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Publication Date:
15 July 2009 (online)

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Summary

Mutations in the insulin receptor (IR) gene cause inherited insulin resistant syndromes. Patient Atl-1 with leprechaunism was homozygous for the substitution of Arg-86 with Pro (R86P) in the a subunit of the IR. Fibroblasts with the mutant receptor had defective insulin binding, but increased glucose transport and receptor kinase activity.