FAQ

CLCN7 protein, human

Known as: CLC-7 chloride channel protein, human, Chloride Channel 7 Alpha Subunit, CLCN7 
H(+)/Cl(-) exchange transporter 7 (805 aa, ~89 kDa) is encoded by the human CLCN7 gene. This protein plays a role in proton-coupled, chloride anion… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1998-2018
0519982018

Related topics

Related topics

13 relations
Acid-Base EquilibriumCLCN7 geneCellular MembraneGated Ion Channel
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Broader (1)

Chloride Channels

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
CLCN7 protein, human
Ion Channel
Chloride Channels
Transmembrane Transport
Acid-Base Equilibrium
Gated Ion Channel

Papers overview

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2014
2014
CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Osteopetrosis is an inherited disorder of impaired bone resorption, with the most commonly affected genes being CLCN7 and TCIRG1… (More)
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2012
2012
Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia.
Osteopetrosis is a group of genetic bone disorders. There are three types of osteopetrosis: autosomal recessive osteopetrosis… (More)
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2010
2010
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
During lysosomal acidification, proton-pump currents are thought to be shunted by a chloride ion (Cl-) channel, tentatively… (More)
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2009
2009
Targeted disruption of the Cl-/HCO3- exchanger Ae2 results in osteopetrosis in mice.
Osteoclasts are multinucleated bone-resorbing cells responsible for constant remodeling of bone tissue and for maintaining… (More)
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2006
2006
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
CONTEXT Genetic factors are important determinants of bone mineral density (BMD). The fact that mutations in the ClC-7 chloride… (More)
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2005
2005
Polymorphisms of the CLCN7 gene are associated with BMD in women.
UNLABELLED Here we show that a common polymorphism causing a valine to methionine amino acid substitution at codon 418 (V418M) in… (More)
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2004
2004
In vitro differentiation of CD14 cells from osteopetrotic subjects: contrasting phenotypes with TCIRG1, CLCN7, and attachment defects.
UNLABELLED We studied osteoclastic differentiation from normal and osteopetrotic human CD14 cells in vitro. Defects in acid… (More)
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2004
2004
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis.
Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures… (More)
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2002
2002
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis
Osteopetrosis is a heterogeneous group of inherited disorders that includes a malignant autosomal recessive form, an intermediate… (More)
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1999
1999
Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes(1).
The CLC family of voltage-gated chloride channels comprises nine members in mammals. CLCN6 and CLCN7 belong to a novel, poorly… (More)
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