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The cystic fibrosis transmembrane conductance regulator (CFTR) gene is mutated in individuals with the cystic fibrosis (CF) disease. This gene encodes the CFTR protein which is a membrane channel protein for chloride ion transport.

Most individuals with CF do not have any detectable CFTR protein in their cytoplasmic membrane despite a difference of only one amino acid at residue 508 when compared with wild-type CFTR protein.

The most likely reason for the absence of this mutant protein in the cytoplasmic membrane is


the protein does not get translated due to the mutation.


the mutant protein is too small to be transported by the endomembrane system.


the mutant protein has a retention tag which does not allow it to be secreted from the Golgi complex.


the protein fails to fold appropriately and is exported for targeted degradation.

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