Cystic fibrosis transmembrane regulator (CFTR) is a protein encoded by the CFTR gene on chromosome 7q31.2 and is responsible for regulating chloride passage across cell membranes. It is this gene that is mutated in patients with cystic fibrosis (CF) resulting in abnormally thick secretions. There are at least 6 classes of mutations, the commonest being ∂F508.
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|Cystic fibrosis transmembrane regulating (CFTR) protein||✗|
|Cystic fibrosis transmembrane regulator (CFTR)||✗|