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The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane regulator.

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8y ago

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A mutation in the CFTR gene causes the protein CFTR to fold improperly. This mutation results in a defective CFTR protein that cannot function properly, leading to the development of cystic fibrosis.


What is the purpose of the CFTR protein in the human body?

The CFTR protein helps regulate the flow of chloride ions in and out of cells, which is important for maintaining the balance of salt and water in various tissues, including the lungs and digestive system. Its proper function is crucial for normal respiratory and digestive processes in the body.


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The CFTR protein product is responsible for?

The CFTR protein product is responsible for transporting chloride ions across epithelial cell membranes, which is crucial for maintaining the balance of salt and water in tissues. This function is essential for the proper functioning of organs such as the lungs, pancreas, and intestines. Mutations in the CFTR gene lead to cystic fibrosis, a condition characterized by thick mucus buildup and various complications in these organs. Overall, CFTR plays a vital role in fluid secretion and homeostasis in various bodily systems.


Where would CFTR be expressed most?

Cystic fibrosis transmembrane conductance regulator (CFTR) is most abundantly expressed in epithelial tissues, particularly in the lungs, pancreas, intestines, and sweat glands. In the lungs, CFTR plays a critical role in regulating chloride and water transport, which is essential for maintaining proper mucus viscosity and hydration. It is also important in the pancreas for bicarbonate secretion, aiding in digestive processes. Additionally, CFTR is found in other tissues, but its highest expression and functional significance are in those key epithelial sites.


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