期刊
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
卷 458, 期 1, 页码 23-37出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-008-0597-z
关键词
Vesicular pH; Hyperphosphaturia; Vitamin D; Megalin; Gene disruption; CLCN5
类别
资金
- Deutsche Forschungsgemeinschaft
- Bundesministerium fur Bildung und Forschung (BMBF) [NGFN2]
- European Union
- Prix Louis-Jeantet de Medecine
- Ernst-Jung-Preis fur Medizin
The CLC gene family encodes Cl- channels or Cl-/H+ exchangers. While our understanding of their structure-function relationship has greatly benefited from the crystal structure of bacterial homologues, human inherited diseases and knock-out mice were crucial in deciphering their physiological roles. Several vesicular CLC Cl-/H+ exchangers are expressed in the proximal tubule (PT). ClC-5 mutations cause Dent's disease which is associated with low molecular weight proteinuria and kidney stones. ClC-5 knock-out mice revealed impaired endocytosis as the primary defect in Dent's disease. It extends to receptor-mediated and fluid-phase endocytosis and entails changes in calciotropic hormones that result in kidney stones. No renal functions could be assigned so far to ClC-3 and ClC-4, which are also expressed in PTs. Loss of ClC-7 or its beta-subunit Ostm1 entails lysosomal storage in the PT, in addition to the neuronal lysosomal storage and osteopetrosis that are the hallmarks of ClC-7/Ostm1 loss in mice and men.
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