Defects in the CFTR gene in cystic fibrosis

Schematic representation of the biosynthesis and function of CFTR in an epithelial cell and of mechanisms of dysfunction associated with different pathogenic CFTR variants.

CFTR: cystic fibrosis transmembrane conductance regulator; Cl-: chloride ion; NB01 and NB02: nuclear binding folds; ATP: adenosine triphosphate; PKA: phosphokinase A; ER: endoplasmic reticulum.

Adapted from Welsh, MJ, Tsui, L-C, Boat, T, Beaudet, AL. Cystic fibrosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver, CR, Beaudet, AL, Sly, WS, et al (Eds), McGraw-Hill, New York, 1995, p. 3801.

Graphic 80517 Version 4.0

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