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Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

Authors: Kornak, U  Kasper, D  Bosl, MR  Kaiser, E  Schweizer, M  Schulz, A  Friedrich, W  Delling, G  Jentsch, TJ 
Citation: Kornak U, etal., Cell 2001 Jan 26;104(2):205-15.
Pubmed: (View Article at PubMed) PMID:11207362

Chloride channels play important roles in the plasma membrane and in intracellular organelles. Mice deficient for the ubiquitously expressed ClC-7 Cl(-) channel show severe osteopetrosis and retinal degeneration. Although osteoclasts are present in normal numbers, they fail to resorb bone because they cannot acidify the extracellular resorption lacuna. ClC-7 resides in late endosomal and lysosomal compartments. In osteoclasts, it is highly expressed in the ruffled membrane, formed by the fusion of H(+)-ATPase-containing vesicles, that secretes protons into the lacuna. We also identified CLCN7 mutations in a patient with human infantile malignant osteopetrosis. We conclude that ClC-7 provides the chloride conductance required for an efficient proton pumping by the H(+)-ATPase of the osteoclast ruffled membrane.

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CRRD Object Information
CRRD ID: 737783
Created: 2004-02-26
Species: All species
Last Modified: 2004-02-26
Status: ACTIVE



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