The delta-F-508 mutation is the most common one associated with this disease, in which a phenyalalanine residue in a protein that controls transport of chlorine and sodium ions across epithelial cell membranes is deleted.
The protein mutated in this disease is anchored to the cytoskeleton via a C-terminal PDZ-interacting domain, and also contains a pair of transmembrane domains with six helices each. One of said proteins nucleotide-binding domains is connected to a regulatory domain, which is unusual for its class. Mutations in neutrophils are correlated with the severity of this disease. Patients may have bile ducts blocked by eosinophilic material while most adult men with this disorder have congenital absence of the vas deferens. The delta-F-508 mutation is the most common one associated with this disease, in which a phenyalalanine residue in a protein that controls transport of chlorine and sodium ions across epithelial cell membranes is deleted. Traditional treatment involves chest percussion and it is diagnosed by stimulation with pilocarpine in the "sweat test". Name this autosomal recessive disorder that, for 10 points, is most serious when the abnormally viscous mucus cannot be removed by the lung's bronchial cilia.
The protein mutated in this disease is anchored to the cytoskeleton via a C-terminal PDZ-interacting domain, and also contains a pair of transmembrane domains with six helices each.
{cystic fibrosis}