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CFTR, CF transmembrane conductance regulator

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CFTR, CF transmembrane conductance regulator

  • 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]

  • Gene Synonyms (cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulating, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1,)
  • NCBI Gene ID: 1080
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>A0A024R730
    UNIPROT ID#>>P13569
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

CF transmembrane conductance regulator interacts with:

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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