Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Chlorid-Kanal 7

Das CLCN7-Gen kodiert einen Chloridkanal. Mutation führen zu autosomal dominanten und rezessiven Formen der Osteopetrose.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Autosomal dominante Osteopetrose 2
CLCN7
Autosomal rezessive Osteopetrose 4
CLCN7

Referenzen:

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.

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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3.

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

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4.

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

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5.

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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6.

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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7.

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

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8.

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

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9.

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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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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Update: 27. März 2019