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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cystic fibrosis


Other Names for this Disease

  • CF
  • Mucoviscidosis
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Cause

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What causes cystic fibrosis?

Mutations in a single gene, namely the Cystic Fibrosis Transmembrane Regulator (CFTR) gene, cause CF. More than 900 mutations in this gene have been identified. This gene provides the instructions for the CFTR protein. In normal cells, the CFTR protein acts as a channel that allows cells to release chloride and other ions. But in people with CF, this protein is defective and the cells do not release the chloride. The result is an improper salt balance in the cells which leads to thick, sticky mucus.[1]
Last updated: 8/23/2011

References
  1. Learning about Cystic Fibrosis. National Human Genome Research Institute . July 2010; http://www.genome.gov/page.cfm?pageID=10001213 . Accessed 8/23/2011.


Other Names for this Disease
  • CF
  • Mucoviscidosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.