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Genetic and Rare Diseases Information Center (GARD)

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Cystic fibrosis

Other Names for this Disease
  • CF
  • Mucoviscidosis
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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

  1. Learning about Cystic Fibrosis. National Human Genome Research Institute . July 2010; . Accessed 8/23/2011.