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.

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
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.

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

NCBI article

NCBI 1186 [^]
13.

OMIM.ORG article

Omim 602727 [^]
Update: 29. April 2019