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作 者:何柳 丛馨[1] HE Liu;CONG Xin(Department of Physiology and Pathophysiology,School of Basic Medical Sciences,Peking University Health Science Center,Beijing 100191,China)
机构地区:[1]北京大学基础医学院生理学与病理生理学系,北京100191
出 处:《生理科学进展》2023年第5期445-450,共6页Progress in Physiological Sciences
基 金:国家自然科学基金(31972908)资助课题。
摘 要:Claudin-10是紧密连接跨膜蛋白claudin家族的一员,在多个器官和组织的上皮细胞中表达,存在claudin-10a与10b两种同工型。Claudin-10具有维持细胞膜选择透过性和调节离子经旁细胞途径转运的作用。近年来,claudin-10已被报道与多种疾病的发生发展过程相关。Claudin-10基因突变导致的多种器官功能受损的疾病被命名为HELIX综合征,患者具有无汗症、肾病、低钾血症、口干症及严重的牙釉质磨损等临床表现。本文将对claudin-10的分子结构、表达与分布、功能与疾病关系等方面的研究进展进行综述。Claudin-10,a member of the claudin family of tight junction transmembrane proteins,is expressed in epithelial cells of multiple organs and tissues,with two isoforms,claudin-10a and claudin-10b.It plays a critical role in maintaining the selective permeability of cell membrane and regulating ion transport through the paracellular pathway.In recent years,claudin-10 has been reported to be associated with the development and progression of a variety of diseases.Diseases characterized by impaired function of multiple organs due to mutations in the claudin-10 gene are collectively referred to as HELIX syndrome,which generally results in clinical manifestations such as anhidrosis,renal disease,hypokalemia,xerostomia,and severe enamel wear.In this review,the research progress on claudin-10 will be presented,including its molecular structure,expression and distribution,as well as the relationship between claudin-10 function and diseases.
关 键 词:claudin-10 紧密连接 旁细胞途径 HELIX综合征
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