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

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.