CFTR

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]

Description

CF transmembrane conductance regulator

Tissue specificity

Tissue enhanced (gallbladder, intestine, pancreas)

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

7 (117287120 - 117715971)

Ensembl ID

ENSG00000001626  (ver. 103.38)

Orthologs

Mouse Cftr: ENSMUSG00000041301

UniProt

P13569

neXtProt

NX_P13569

Human splice variants
Mouse splice variants

Protein structure