Ion Transport: The essential role of CFTR protein
The cystic fibrosis transmembrane conductance regulator (CFTR) gene, located on chromosome 7, encodes the CFTR protein.1
CFTR gene and the CFTR protein channel
Normal CFTR protein channels transport ions, such as chloride and bicarbonate, through the apical membrane of epithelial cells. This helps to regulate fluid and electrolyte balance in epithelial tissues throughout the body, such as in the lungs, sinuses, pancreas, intestine, reproductive system, and sweat glands.1,2
How are CFTR proteins made? Learn more.
- Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67(2):117‐133.
- Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis: membrane transport disorders. In: Valle D, Beaudet A, Vogelstein B, et al, eds. The Online Metabolic & Molecular Bases of Inherited Disease. The McGraw‐Hill Companies Inc; 2004:part 21, chap 201. www.ommbid.com.