VX-807
Encyclopedia
VX-807 is an experimental drug for the treatment of cystic fibrosis
. The drug is designed to be effective in patients that have the F508del mutation in the cystic fibrosis transmembrane conductance regulator
(CFTR), the defective protein that causes the disease. F508del, meaning that the amino acid phenylalanin in position 508 is missing, is found in about 90% of cystic fibrosis patients.
Cystic fibrosis
Cystic fibrosis is a recessive genetic disease affecting most critically the lungs, and also the pancreas, liver, and intestine...
. The drug is designed to be effective in patients that have the F508del mutation in the cystic fibrosis transmembrane conductance regulator
Cystic fibrosis transmembrane conductance regulator
Cystic fibrosis transmembrane conductance regulator is a protein that in humans is encoded by the CFTR gene.CFTR is a ABC transporter-class ion channel that transports chloride and thiocyanate ions across epithelial cell membranes...
(CFTR), the defective protein that causes the disease. F508del, meaning that the amino acid phenylalanin in position 508 is missing, is found in about 90% of cystic fibrosis patients.
See also
- Ataluren, targeting nonsense mutations
- IvacaftorIvacaftorIvacaftor is an experimental drug candidate for the treatment of cystic fibrosis, currently under development by Vertex Pharmaceuticals and the Cystic Fibrosis Foundation. The drug is designed to be effective in patients that have the G551D mutation in the defective protein that causes the disease...
, targeting the G551D mutation