Gosset Molecular Classification
ABC transporter, Ion channel, Transporter
Disease Roles
Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Overview
The cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel that regulates the movement of chloride and bicarbonate ions across epithelial cell membranes. Mutations in the *CFTR* gene cause cystic fibrosis, a genetic disorder characterized by thickened secretions in the lungs, pancreas, and other organs.
Mechanism of Action
CFTR potentiators enhance the channel-opening probability (gating) of mutant CFTR proteins at the cell surface. CFTR correctors promote the proper folding and trafficking of misfolded CFTR proteins to the cell surface.
Biological Functions
Chloride ion transport
Bicarbonate ion transport
Regulation of epithelial fluid balance
Regulation of mucus consistency
Disease Associations
Cystic fibrosis
Secretory diarrhea
Polycystic kidney disease
Safety Considerations
- Drug interactions
- Adverse effects of CFTR modulators (e.g., elevated liver enzymes)
- Limited efficacy in certain CFTR mutations
- High cost of CFTR modulator therapies
Interacting Drugs
CFTR potentiators (e.g., Ivacaftor)
CFTR correctors (e.g., Lumacaftor, Tezacaftor, Elexacaftor)
Associated Biomarkers
| Biomarker |
|---|
| Sweat chloride test |
| CFTR genotyping |
| Nasal potential difference (NPD) |