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Gain-of-function Mutations in Human Genetic Disorders

  1. Lee S Weinstein

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005491

eLS

eLS

How to Cite

Weinstein, L. S. 2006. Gain-of-function Mutations in Human Genetic Disorders. eLS. .

Author Information

  1. National Institutes of Health, Bethesda, Maryland, USA

Publication History

  1. Published Online: 27 JAN 2006

Abstract

Gain-of-function (activating) mutations alter the amino acid sequence of gene protein products, generating proteins that have increased constitutive activity even in the absence of physiological activators or that are insensitive to negative regulation. Many of these mutations affect signaling molecules, leading to disorders resulting from constitutive activation of hormonal and other signaling pathways.

Keywords:

  • activating mutations;
  • guanine nucleotide regulatory protein;
  • hormone receptors;
  • signal transduction;
  • McCune–albright syndrome