Kunzelmann K
Department of Physiology and Pharmacology, University of Queensland, St. Lucia, Queensland 4072, Australia.
News Physiol Sci. 2001 Aug;16:167-70. doi: 10.1152/physiologyonline.2001.16.4.167.
More than 1,300 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) are the cause for cystic fibrosis. CFTR is in charge of proper secretion and absorption of electrolytes, and thus the disease is characterized by defective epithelial Cl(-) secretion and enhanced Na(+) absorption. Recent studies show that CFTR interacts with other proteins via PDZ domains.
囊性纤维化跨膜传导调节因子（CFTR）中超过1300种不同的突变是导致囊性纤维化的原因。CFTR负责电解质的正常分泌和吸收，因此该疾病的特征是上皮细胞氯离子（Cl⁻）分泌缺陷和钠离子（Na⁺）吸收增强。最近的研究表明，CFTR通过PDZ结构域与其他蛋白质相互作用。
