Article
Disease-related misassembly of membrane proteins.
Annual review of biophysics and biomolecular structure - 1 Jan 2004
Sanders Charles R, Myers Jeffrey K
Abstract excerpt
Medical genetics so far has identified approximately 16,000 missense mutations leading to single amino acid changes in protein sequences that are linked to human disease. A majority of these mutations affect folding or trafficking, rather than specifically affecting protein function. Many disease-linked mutations occur in integral membrane proteins, a class of proteins about whose folding we know very little. We...
Topics
- Gene Expression Regulation
- Genetic Diseases, Inborn
- Humans
- Membrane Proteins
- Mutation
- Protein Denaturation
- Protein Folding
- Protein Transport
- Structure-Activity Relationship
- Transcription, Genetic