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Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules

Item Type:Review
Title:Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules
Creators Name:Plans, V. and Rickheit, G. and Jentsch, T.J.
Abstract: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.
Keywords:Vesicular pH, Hyperphosphaturia, Vitamin D, Megalin, Gene disruption, CLCN5, Animals, Mice
Source:Pfluegers Archiv European Journal of Physiology
ISSN:0031-6768
Publisher:Springer (Germany)
Volume:458
Number:1
Page Range:23-37
Date:May 2009
Additional Information:The original publication is available at www.springerlink.com
Official Publication:https://doi.org/10.1007/s00424-008-0597-z
PubMed:View item in PubMed

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