11 Jun How does a mutation in the CFTR gene result in cystic
Question
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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