Defective CFTR causes cystic fibrosis

Stable Identifier
Homo sapiens
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Cystic fibrosis transmembrane conductance regulator (CFTR) is a low conductance chloride-selective channel that mediates the transport of chloride ions in human airway epithelial cells. Chloride ions plays a key role in maintaining homoeostasis of epithelial secretions in the lungs. Defects in CFTR can cause cystic fibrosis (CF; MIM:602421), a common generalised disorder in Caucasians affecting the exocrine glands. CF results in an ionic imbalance that impairs clearance of secretions, not only in the lung, but also in the pancreas, gastrointestinal tract and liver. Wide-ranging manifestations of the disease include chronic lung disease, exocrine pancreatic insufficiency, blockage of the terminal ileum, male infertility and salty sweat. The median survival of CF patients in North America and Western Europe is around 40 years (Davis 2006, Radlovic 2012).

Literature References
PubMed ID Title Journal Year
21652558 Cystic fibrosis transmembrane conductance regulator intracellular processing, trafficking, and opportunities for mutation-specific treatment

Rogan, MP, Stoltz, DA, Hornick, DB

Chest 2011
2570460 Identification of the cystic fibrosis gene: genetic analysis

Markiewicz, D, Buchanan, JA, Buchwald, M, Kerem, B, Cox, TK, Tsui, LC, Chakravarti, A, Rommens, JM

Science 1989
16126935 Cystic fibrosis since 1938

Davis, PB

Am. J. Respir. Crit. Care Med. 2006
22650116 Cystic fibrosis

Radlovi?, N

Srp Arh Celok Lek 2012
Name Identifier Synonyms
cystic fibrosis DOID:1485 mucoviscidosis, CF
Cross References
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