CFTR —— CF跨膜电导调节器

CFTR

CF跨膜电导调节器

CF transmembrane conductance regulator

该基因编码ATP结合盒（ABC）转运蛋白超家族的成员。编码的蛋白质起氯离子通道的作用，使其在该蛋白质家族中独树一帜，并控制离子和水在上皮组织中的分泌和吸收。通道激活由调节域磷酸化，核苷酸结合域的ATP结合和ATP水解的循环介导。该基因的突变会导致囊性纤维化，这是北欧人后裔中最常见的致命遗传疾病。囊性纤维化中最常见的突变是DeltaF508，导致编码蛋白的折叠和运输受损。在人类基因组中已经鉴定出多个假基因。[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]