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The cystic fibrosis transmembrane conductance regulator (CFTR) is a novel member of the ATP-binding cassette (ABC) transporter superfamily that forms an anion channel with complex regulation. CFTR is predominantly located in epithelia lining ducts and tubes throughout the body, although it is also expressed in some non-epithelial tissues, most notably cardiac myocytes. In epithelia, CFTR provides a pathway for the movement of chloride (Cl-) and bicarbonate anions across the apical (lumen-facing) membrane and a key point at which to regulate the rate of transepithelial salt and water transport.
Dysfunction of the CFTR Cl- channel is associated with a wide spectrum of disease. Mutations that, in general, abolish the function of CFTR cause the genetic disease cystic fibrosis (CF), which affects multiple organ systems in the body. By contrast, some forms of male infertility, chronic pancreatitis and bronchiectasis are caused by mutations that probably preserve partial CFTR function. These conditions, termed CFTR-related diseases, affect a single organ system in the body. Increased or inappropriate activity of the CFTR Cl- channel is associated with other diseases, such as secretory diarrhoea and autosomal dominant polycystic kidney disease.
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Hongyu Li,Mayuree Rodrat, Majid K. Al-Salmani, Diana-Florentina Veselu,Sangwoo T. Han,Karen S. Raraigh,Garry R. Cutting,David N. Sheppard
JOURNAL OF PHYSIOLOGY-LONDONno. 2 (2024): 333-354
David Sheppard, Zhiwei Cai,David Lea-Smith, Barbara Stevenson,Ann Doherty,Heather Davidson,David Porteous, A. Boyd
PHYSIOLOGYno. S1 (2023)
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Journal of Cystic Fibrosis (2023): S104-S104
Journal of Cystic Fibrosis (2023): S44-S45
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Studies of Epithelial Transporters and Ion ChannelsPhysiology in Health and Diseasepp.605-670, (2020)
James Higham,Giriraj Sahu,Rima-Marie Wazen,Pina Colarusso, Alice Gregorie, Bartholomew S. J. Harvey,Lucy Goudswaard, Gemma Varley,David N. Sheppard,Ray W. Turner,Neil Marrion
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