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Cystic fibrosis is caused by a mutation on the recessive allele of the CFTR gene. It is caused by a deletion of three adenine bases, so the CFTR protein produced has 1479 amino acids instead of 1480, although only one amino acid is missing this has an effect on the tertiary structure of the protein produced. The CFTR protein normally allows Chloride ions out of the epithelial cells of the airways, producing a more negative water potential outside of the cell and so water would usually move out of the cell and flush away the mucus. Since this protein is non-functional, water remains in the cell. Therefore this produces thick, sticky and viscous mucus, that can trap pathogens and cause disease for example.

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Addie Douglas

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2y ago

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