Chloride channel 7 alpha subunit

Yoneyama T et al. (1992) Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II--a family study.

Bénichou O et al. (2001) Mapping of autosomal dominant osteopetrosis type II (Albers-Schönberg disease) to chromosome 16p13.3.

Cleiren E et al. (2001) Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.

Kornak U et al. (2001) Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.

Lam CW et al. (2007) DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.

Brandt S et al. (1995) ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.

Blair HC et. al. (2004) In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.

Kasper D et al. (2005) Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration.

Lange PF et al. (2006) ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.

Graves AR et al. (2008) The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.

Weinert S et al. (2010) Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.

NCBI article

OMIM.ORG article