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Draft:CFTR gene

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The Cystic Fibrosis Transmembrane Regulator (CFTR) gene is a protein responsible for the regulation of chloride channel functions in the pancreas, lungs, liver, sweat glands, reproductive tract and intestines. This gene is important for controlling the consistency and viscosity of mucous present in these tissues/organ systems. In addition, CFTR also controls the transport of bicarbonate (HCO3-) which plays a large role in the immune system as well as mucous production. When this gene is mutated/defected, it can cause a disease called Cystic Fibrosis, which is typically characterized by a heritable ailment associated with the production of abnormally thick mucus that can clog airways or organ systems. Because the CFTR gene effects many organ systems and various tissues throughout the body, cystic fibrosis causes a host of problems that can affect several different regions of the body. Scientists are currently developing treatments for cystic fibrosis by inserting the defective human CFTR gene in mice and treating them with various gene therapies in hopes of curing individuals with cystic fibrosis.

References

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Hanssens LS, Duchateau J, Casimir GJ. CFTR Protein: Not Just a Chloride Channel? Cells. 2021 Oct 22;10(11):2844. doi: 10.3390/cells10112844. PMID: 34831067; PMCID: PMC8616376. Blotas C, Férec C, Moisan S. Tissue-Specific Regulation of CFTR Gene Expression. International Journal of Molecular Sciences. 2023; 24(13):10678. https://doi.org/10.3390/ijms241310678