Jilling T, Kirk K L
Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham 35294, USA.
Int Rev Cytol. 1997;172:193-241. doi: 10.1016/s0074-7696(08)62361-x.
The cystic fibrosis transmembrane conductance regulator (CFTR) is a cyclic AMP-activated chloride channel that is encoded by the gene that is defective in cystic fibrosis. This ion channel resides at the luminal surfaces and in endosomes of epithelial cells that line the airways, intestine, and a variety of exocrine glands. In this article we discuss current hypotheses regarding how CFTR functions as a regulated ion channel and how CF mutations lead to disease. We also evaluate the emerging notion that CFTR is a multifunctional protein that is capable of regulating epithelial physiology at several levels, including the modulation of other ion channels and the regulation of intracellular membrane traffic. Elucidating the various functions of CFTR should contribute to our understanding of the pathology in cystic fibrosis, the most common lethal genetic disorder among Caucasians.
囊性纤维化跨膜传导调节因子（CFTR）是一种由囊性纤维化缺陷基因编码的环磷酸腺苷激活的氯离子通道。该离子通道位于气道、肠道和各种外分泌腺内衬上皮细胞的管腔表面和内体中。在本文中，我们讨论了关于CFTR如何作为一种受调节的离子通道发挥作用以及CF突变如何导致疾病的当前假说。我们还评估了一种新出现的观点，即CFTR是一种多功能蛋白，能够在多个层面调节上皮生理功能，包括调节其他离子通道和细胞内膜运输。阐明CFTR的各种功能应有助于我们理解囊性纤维化（白种人中最常见的致命性遗传疾病）的病理机制。
