Protein folding in health and disease lecture Flashcards
1
Q
Where does protein modification and folding occur?
A
ER
2
Q
What is the translocon?
A
A protein pore in the ER membrane through which proteins are synthesised. The ribosome sits on top of it and the new protein chain is inserted.
3
Q
Where does the CFTR protein get checked for misfolding?
A
In the ER where the protein is made.
If a protein is misfolded but salvageable then it will be refolded by chaperones in the ER
4
Q
What does the p.Phe508del CFTR mutation result in?
A
Deletion of 3 bases that results in a missing phenylalanine amino acid at position 508 in the protein.
The protein cannot fold correctly so is degraded at the proteasome. This means the protein doesn’t reach the plasma membrane and cannot perform it’s function.
