Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Chloride channel 7 alpha subunit

The CLCN7 gene encodes a chloride channel that is involved in regulation of bone formation. Mutations cause atosomal dominant and recessive forms of osteopetrosis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Autosomal dominant osteopetrosis 2
CLCN7
Autosomal recessive osteopetrosis 4
CLCN7

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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.

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

NCBI article

NCBI 1186 external link
13.

OMIM.ORG article

Omim 602727 external link
Update: Aug. 14, 2020
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