Genetic variants of insulin receptor substrate‐1 (IRS‐1) in syndromes of severe insulin resistance. Functional analysis of Ala513Pro and Gly1158Glu IRS‐1

Abstract

While subtle effects of these variants cannot be excluded in this system, it is unlikely that these variants are responsible for the extreme insulin resistance seen in the subjects harbouring them. Although IRS proteins play a central role in insulin signalling, functionally significant mutations in the IRS-1 gene are a rare cause of human syndromes of severe insulin resistance.