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proteins. Page last changed on 19 Aug 2016.
Chloride channel 6
ClC-6, CLCN6
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012] (from
NCBI)
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Top mentioned proteins:
ClC-7, ClC-5, ClC-3, ClC-2, ClC-4
Papers using
ClC-6
antibodies
Analysis of glycoprotein-associated oligosaccharides.
Supplier
In PLoS ONE, 1992
... Rabbit antisera directed against human ClC-6 were raised against the synthetic peptide RKRSQSMKSYPSSEL (corresponding to residues 672–686 in hClC-6a) by Eurogentec (Seraing, Belgium) ...
Papers on
ClC-6
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk.
New
Rotterdam, Netherlands. In Circ Cardiovasc Genet, Jan 2016
In the first stage discovery, rare coding variants (splicing, stop-gain, stop-loss, nonsynonymous variants, or indels) in CLCN6 were associated with lower DBP (cumulative MAF=1.3%, β=-3.20,
The rs3737964 single-nucleotide polymorphism of the chloride channel-6 gene as a risk factor for coronary heart disease.
New
Wuhan, China. In Mol Genet Genomic Med, Nov 2015
The present study investigates the association of single-nucleotide polymorphisms (SNPs) on the chloride channel-6 (CLC-6) gene with coronary heart disease (CHD) in China.
Novel Genes Affecting Blood Pressure Detected Via Gene-Based Association Analysis.
New
Suzhou, China. In G3 (bethesda), Jun 2015
CLCN6 (P = 4.79×10(-9)), FURIN (P = 1.38×10(-6)),
Circulating atrial natriuretic peptide genetic association study identifies a novel gene cluster associated with stroke in whites.
New
Rochester, United States. In Circ Cardiovasc Genet, Feb 2015
Thirty-three genome-wide significant single-nucleotide polymorphisms were identified in the MTHFR-CLCN6-NPPA-NPPB locus and were all replicated.
Association between serum level of ubiquinol and NT-proBNP, a marker for chronic heart failure, in healthy elderly subjects.
Kiel, Germany. In Biofactors, 2015
Interestingly, ubiquinol supplementation (150 mg/day; 14 day; n = 53) slightly reduces the expression of CLCN6, a gene related to NT-proBNP level.
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
Tokyo, Japan. In Plos One, 2014
We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6).
Patterned expression of ion channel genes in mouse dorsal raphe nucleus determined with the Allen Mouse Brain Atlas.
GeneRIF
Boston, United States. In Brain Res, 2012
This study demonistrated that clcn6 gene expression in mouse dorsal raphe nucleus
Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses.
Review
Córdoba, Argentina. In Curr Pharm Biotechnol, 2011
Other NCL genes are hypothesized, including CLN4 and CLN9; CLCN6, CLCN7 and possibly SGSH are under study.
Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.
Bolzano - Bozen, Italy. In Hum Mol Genet, 2011
A genome-wide significant signal in the MTHFR-CLCN6-NPPA-NPPB gene cluster was replicated, after correction for multiple testing (replication one-sided P-value = 8.4 × 10(-10)).
Genetic architecture of ambulatory blood pressure in the general population: insights from cardiovascular gene-centric array.
Leicester, United Kingdom. In Hypertension, 2010
We found a strong association between rs13306560 polymorphism in the promoter region of MTHFR and CLCN6 and mean 24-hour diastolic blood pressure; each minor allele copy of rs13306560 was associated with 2.6 mm Hg lower mean 24-hour diastolic blood pressure (P = 1.2 × 10⁻⁸).
Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
GeneRIF
London, United Kingdom. In J Neuropathol Exp Neurol, 2010
Chloride channel 6 (Clcn6) deficient mice have a later-onset form of mild neurologic dysfunction similar to neuronal ceroid lipofuscinosis.
The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.
GeneRIF
Berlin, Germany. In J Biol Chem, 2010
late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression
Chloride channels and transporters in human corneal epithelium.
Davis, United States. In Exp Eye Res, 2010
The mRNAs of CLC-2, CLC-3, CLC-4, CLC-5, CLC-6, and CFTR were detected in the HCE cell line.
Chloride and the endosomal-lysosomal pathway: emerging roles of CLC chloride transporters.
Berlin, Germany. In J Physiol, 2007
The associated mouse and human pathologies, ranging from impaired endocytosis and nephrolithiasis (ClC-5) to neurodegeneration (ClC-3), lysosomal storage disease (ClC-6, ClC-7/Ostm1) and osteopetrosis (ClC-7/Ostm1), were crucial in identifying the physiological roles of vesicular CLCs.
Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains.
GeneRIF
Leuven, Belgium. In Plos One, 2006
differential sorting of endogenous (late endosomal) versus overexpressed (early and recycling endosomal) ClC-6 is reminiscent of that of other late endosomal/lysosomal membrane proteins
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.
GeneRIF
Hamburg, Germany. In Proc Natl Acad Sci U S A, 2006
ClC-6 protein is almost exclusively expressed in neurons of the central and peripheral nervous systems, with a particularly high expression in dorsal root ganglia.
