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Cystic fibrosis (CF) is caused by mutations in the CFTR gene, which encodes the cystic fibrosis transmembrane conductance regulator protein. This protein is responsible for regulating the movement of chloride ions across epithelial cell membranes. Mutations lead to dysfunctional or absent CFTR protein, resulting in thick, sticky mucus buildup in various organs, particularly the lungs and pancreas. This can cause respiratory infections, digestive issues, and other complications characteristic of CF.

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1w ago

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