How does a mutation in the CFTR gene result in cystic fibrosis? The cells with the mutation die and

How does a mutation in the CFTR gene result in cystic fibrosis?

  • The cells with the mutation die and cause the symptoms of cystic fibrosis
  • The dysfunctional protein pumps ions to the incorrect place
  • The gene is transcribed and translated to no protein or a dysfunctional protein
  • The parents are carriers so the recessive mutation causes cystic fibrosis

The severity of the disease (in our example from CFTR) is dependent on…

  • How close to the transcription start site the mutation occurs
  • The final quantity and functionality of the protein in the plasma membrane
  • The location of the misfolded protein
  • The stability of the mislocalized protein

An example of protein trafficking is

  • A nascent protein being translated and translocating through a translocon
  • A protein attached to a COPII vesicle being returned to the cis-golgi
  • Dynamin pinching off a vesicle
  • The golgi modifying a protein such that the M6P signal is “active”

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