Article
Degradation of mutant proteins, underlying "loss of function" phenotypes, plays a major role in genetic disease.
Current issues in molecular biology - 1 Jul 2001
Waters P J
Abstract excerpt
Many Mendelian monogenic disorders are caused by loss of the function of a single protein. This can result from rapid degradation of the mutant protein by cellular proteases, which reduces the steady-state concentration of the protein within the cell. The susceptibility of a protein to such proteolytic breakdown depends upon its kinetics of monomer folding and oligomer assembly and upon the intrinsic...
Topics
- Genetic Diseases, Inborn
- Humans
- Molecular Chaperones
- Mutation
- Peptide Hydrolases
- Phenotype
- Protein Folding
- Proteins