Protein Name CF transmembrane conductance regulator
Organism Homo sapiens
Gene ID 1080
Gene Symbol


UniProt P13569 (CFTR_HUMAN), A0A024R730 (A0A024R730_HUMAN)
Relationships Total Number of functionally related compound(s) : 1218
Total Number of Articles : 3262

CF transmembrane conductance regulator

Gene Summary

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]

  • cystic fibrosis transmembrane conductance regulator
  • cAMP-dependent chloride channel
  • channel conductance-controlling ATPase
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