RGD Reference Report - Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. - Rat Genome Database

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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.
RGD ID: 737783
Pubmed: PMID:11207362   (View Abstract at PubMed)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
osteopetrosis  ISOClcn7 (Mus musculus)737783; 737783 RGD 
osteopetrosis  IMP 737783 RGD 
retinal degeneration  ISOClcn7 (Mus musculus)737783; 737783 RGD 
retinal degeneration  IMP 737783 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Clcn7  (chloride voltage-gated channel 7)

Genes (Mus musculus)
Clcn7  (chloride channel, voltage-sensitive 7)

Genes (Homo sapiens)
CLCN7  (chloride voltage-gated channel 7)

Objects referenced in this article
Gene Atp6v1e1 ATPase, H+ transporting, lysosomal V1 subunit E1 Mus musculus
Gene Itgb3 integrin beta 3 Mus musculus

Additional Information