Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.[5][6]
Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis).[7]
The CFTR gene codes for an ABC transporter-class ion channel protein that conducts chloride[8] and bicarbonate ions across epithelial cell membranes. Mutations of the CFTR gene affecting anion channel function lead to dysregulation of epithelial lining fluid (mucus) transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes.[9] These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens (spermatic cord) and epididymis appear to result from abnormal intraluminal secretions,[10] causing congenital absence of the vas deferens and male infertility, and found associated with an imbalance of fatty acids.[11]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000001626 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041301 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Csanády L, Vergani P, Gadsby DC (January 2019). "Structure, Gating, and Regulation of the CFTR Anion Channel". Physiological Reviews. 99 (1): 707–738. doi:10.1152/physrev.00007.2018. PMID 30516439.
- ^ Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. (September 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. 245 (4922): 1059–1065. Bibcode:1989Sci...245.1059R. doi:10.1126/science.2772657. PMID 2772657.
- ^ "Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene | The Embryo Project Encyclopedia". embryo.asu.edu. Retrieved 2022-09-26.
- ^ Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. (September 1989). "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA". Science. 245 (4922): 1066–1073. Bibcode:1989Sci...245.1066R. doi:10.1126/science.2475911. PMID 2475911. S2CID 84566748.
- ^ Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. (September 1989). "Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA". Science. 245 (4922): 1066–1073. doi:10.1016/0168-9525(89)90155-8. PMID 2475911.
- ^ Marcorelles P, Gillet D, Friocourt G, Ledé F, Samaison L, Huguen G, et al. (March 2012). "Cystic fibrosis transmembrane conductance regulator protein expression in the male excretory duct system during development". Human Pathology. 43 (3): 390–397. doi:10.1016/j.humpath.2011.04.031. PMID 21840567.
- ^ Bregman T, Fride E (June 2011). "Treatment with tetrahydrocannabinol (THC) prevents infertility in male cystic fibrosis mice". Journal of Basic and Clinical Physiology and Pharmacology. 22 (1–2): 29–32. doi:10.1515/jbcpp.2011.004. PMID 22865360. S2CID 19335113.