Gene Review:
CLCN7 - chloride channel, voltage-sensitive 7
Homo sapiens
Synonyms:
CLC-7, CLC7, Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7, ...
- Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Kornak, U., Kasper, D., Bösl, M.R., Kaiser, E., Schweizer, M., Schulz, A., Friedrich, W., Delling, G., Jentsch, T.J. Cell (2001)
- Polymorphisms of the CLCN7 gene are associated with BMD in women. Pettersson, U., Albagha, O.M., Mirolo, M., Taranta, A., Frattini, A., McGuigan, F.E., Vezzoni, P., Teti, A., van Hul, W., Reid, D.M., Villa, A., Ralston, S.H. J. Bone Miner. Res. (2005)
- Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. Kornak, U., Ostertag, A., Branger, S., Benichou, O., de Vernejoul, M.C. J. Clin. Endocrinol. Metab. (2006)
- Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Scheel, O., Zdebik, A.A., Lourdel, S., Jentsch, T.J. Nature (2005)
- Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. Waguespack, S.G., Hui, S.L., Dimeglio, L.A., Econs, M.J. J. Clin. Endocrinol. Metab. (2007)
- Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. Kasper, D., Planells-Cases, R., Fuhrmann, J.C., Scheel, O., Zeitz, O., Ruether, K., Schmitt, A., Poët, M., Steinfeld, R., Schweizer, M., Kornak, U., Jentsch, T.J. EMBO J. (2005)
- Recent advances in osteoclast biology and pathological bone resorption. Blair, H.C., Athanasou, N.A. Histol. Histopathol. (2004)
- Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1). Kornak, U., Bösl, M.R., Kubisch, C. Biochim. Biophys. Acta (1999)
- The expression of clcn7 and ostm1 in osteoclasts is coregulated by microphthalmia transcription factor. Meadows, N.A., Sharma, S.M., Faulkner, G.J., Ostrowski, M.C., Hume, D.A., Cassady, A.I. J. Biol. Chem. (2007)
- Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Ramírez, A., Faupel, J., Goebel, I., Stiller, A., Beyer, S., Stöckle, C., Hasan, C., Bode, U., Kornak, U., Kubisch, C. Hum. Mutat. (2004)
- ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. Brandt, S., Jentsch, T.J. FEBS Lett. (1995)
- The chloride channel inhibitor NS3736 [corrected] prevents bone resorption in ovariectomized rats without changing bone formation. Schaller, S., Henriksen, K., Sveigaard, C., Heegaard, A.M., Hélix, N., Stahlhut, M., Ovejero, M.C., Johansen, J.V., Solberg, H., Andersen, T.L., Hougaard, D., Berryman, M., Shiødt, C.B., Sørensen, B.H., Lichtenberg, J., Christophersen, P., Foged, N.T., Delaissé, J.M., Engsig, M.T., Karsdal, M.A. J. Bone Miner. Res. (2004)
- Degradation of the organic phase of bone by osteoclasts: a secondary role for lysosomal acidification. Henriksen, K., Sørensen, M.G., Nielsen, R.H., Gram, J., Schaller, S., Dziegiel, M.H., Everts, V., Bollerslev, J., Karsdal, M.A. J. Bone Miner. Res. (2006)
- Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Frattini, A., Pangrazio, A., Susani, L., Sobacchi, C., Mirolo, M., Abinun, M., Andolina, M., Flanagan, A., Horwitz, E.M., Mihci, E., Notarangelo, L.D., Ramenghi, U., Teti, A., Van Hove, J., Vujic, D., Young, T., Albertini, A., Orchard, P.J., Vezzoni, P., Villa, A. J. Bone Miner. Res. (2003)
- Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. Waguespack, S.G., Koller, D.L., White, K.E., Fishburn, T., Carn, G., Buckwalter, K.A., Johnson, M., Kocisko, M., Evans, W.E., Foroud, T., Econs, M.J. J. Bone Miner. Res. (2003)
- Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). Alatalo, S.L., Ivaska, K.K., Waguespack, S.G., Econs, M.J., Väänänen, H.K., Halleen, J.M. Clin. Chem. (2004)