該基因編碼atp結合盒（abc）轉運蛋白超家族的一個成員。編碼的蛋白質作為氯離子通道發揮作用，使其在該蛋白家族成員中獨一無二，并控制上皮組織中離子和水的分泌和吸收。通道激活由調節域磷酸化、核苷酸結合域結合atp和atp水解的周期介導。這種基因的突變導致囊性纖維化，這是北歐后裔中最常見的致死性遺傳疾病。囊性纖維化中最常見的突變，deltaf508，導致編碼蛋白的折疊和運輸受損。在人類基因組中發現了多個假基因。[由RefSeq提供，2017年8月]
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]