Gain-of-function Mutations in Human Genetic Disorders
Published Online: 27 JAN 2006
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Weinstein, L. S. 2006. Gain-of-function Mutations in Human Genetic Disorders. eLS. .
- Published Online: 27 JAN 2006
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.
- activating mutations;
- guanine nucleotide regulatory protein;
- hormone receptors;
- signal transduction;
- McCune–albright syndrome