| First Author | Kornak U | Year | 2001 |
| Journal | Cell | Volume | 104 |
| Issue | 2 | Pages | 205-15 |
| PubMed ID | 11207362 | Mgi Jnum | J:67273 |
| Mgi Id | MGI:1930330 | Doi | 10.1016/s0092-8674(01)00206-9 |
| Citation | Kornak U, et al. (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell 104(2):205-15 |
| abstractText | 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. |
