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 |
Verknüpfte Erkrankungen:
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. |
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
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13. |
OMIM.ORG article
Omim 602727
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Update: 14. August 2020