1. In cystic fibrosis one amino acid is missing in the CFTR protein. Explain why this...

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Biology

1. In cystic fibrosis one amino acid is missing in the CFTRprotein. Explain why this mutant protein will not end up in theplasma membrane. (You may need to investigate the normal functionof this CFTR gene)
2. Why might a mutation in the DNA NOT lead to an abnormallyfunctioning protein?
3. Describe one genetic disorder in which a gene is mutated andleads to abnormal protein folding ( other than Huntingtonâ€™s). Inâ€œyour disorderâ€, name the gene mutated and how it affects theprotein.
4. Research Huntingtonâ€™s disease: Describe the mechanism of thedisease and its relationship to protein folding. Cite yourreferences.

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Solutions 1 The CFTR gene is responsible for the production of the CFTR protein cystic fibrosis transmembrane conductance regulator protein The major function of this protein is to regulate the transport of charged particles across the cell membrane The protein aids in the movement of chloride ions from inside the cell to outside the cell Once outside these ions attract water which is required by the cilia on lung cell surfaces to clear the passage from mucus buildup In people with mutated CFTR the chloride See Answer

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