CFTR gene

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The Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR gene) codes for the CFTR protein which is heavily involved in the transport of chloride ions accross the plasma membrane [1][2]. Mutations in the delta F508 gene can lead to Cystic Fibrosis.

References

  1. Kerem B, Rommens J M, Buchanan J A, Markiewicz D, Cox T K, Chakravarti A, Buchwald M, Tsui L-C (1989)"Identification of the cystic fibrosis gene: genetic analysis." Science 245:1073-1080
  2. Klug William S, Cummings Michael R, Spencer Charlotte, Palladino Michael. (2014)Concepts of Genetics, 10th edition, Pearson