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Chloride channel 7

ClC-7, CLCN7, chloride channel 7
The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, ClC-5, ATPase, ClC-3
Papers on ClC-7
A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
Wang et al., Guangzhou, China. In Gene, Feb 2016
The CLCN7 and TCIRG1 genes are the major obligate genes responsible for infantile malignant osteopetrosis (IMO).
Novel targets for the prevention of osteoporosis - lessons learned from studies of metabolic bone disorders.
Karsdal et al., Denmark. In Expert Opin Ther Targets, Nov 2015
We focus on the status of anti-sclerostin antibodies, novel parathyroid hormone-related protein analogs, inhibitors of cathepsin K and ClC-7 in osteoclasts, all of which are currently in development.
Using the plant vacuole as a biological system to investigate the functional properties of exogenous channels and transporters.
Carpaneto et al., Genova, Italy. In Biochim Biophys Acta, Oct 2015
Recently, we extended the use of plant vacuoles to the expression and functional characterization of animal intracellular transporters, namely rat CLC-7, and channels, i.e. human TPC2.
Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Xia et al., Beijing, China. In Osteoporos Int, Oct 2015
Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO).
Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.
Estévez et al., Barcelona, Spain. In J Physiol, Oct 2015
The CLC family of chloride channels and transporters is composed by nine members, but only three of them, ClC-Ka/b, ClC-7 and ClC-2, have been found so far associated with auxiliary subunits.
A tale of two CLCs: biophysical insights toward understanding ClC-5 and ClC-7 function in endosomes and lysosomes.
Zifarelli, Oxford, United Kingdom. In J Physiol, Oct 2015
The endosomal ClC-5 and the lysosomal ClC-7 are the best characterized human CLC transporters.
The Foreign Body Giant Cell Cannot Resorb Bone, But Dissolves Hydroxyapatite Like Osteoclasts.
Everts et al., Amsterdam, Netherlands. In Plos One, 2014
At the gene expression level, FBGCs and osteoclasts expressed similar levels of mRNAs that are associated with the dissolution of mineral (e.g., anion exchange protein 2 (AE2), carbonic anhydrase 2 (CAII), chloride channel 7 (CIC7), and vacuolar-type H+-ATPase (v-ATPase)), in contrast the matrix degrading enzyme cathepsin K, which was hardly expressed by FBGCs.
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).
Varadi et al., Abu Dhabi, United Arab Emirates. In Bmc Med Genet, 2014
METHODS: A gene ratio assay copy enumeration (GRACE) PCR method was developed by simultaneous amplification of targets in the α-globin genes (HBA1 and HBA2) and the chloride channel voltage sensitive 7 (CLCN7) reference gene.
Ion channels, channelopathies, and tooth formation.
Duan, Xi'an, China. In J Dent Res, 2014
The channelopathies of tooth include altered eruption (CLCN7, KCNJ2, TRPV3), root dysplasia (CLCN7, KCNJ2), amelogenesis imperfecta (KCNJ1, CFTR, AE2, CACNA1C, GJA1), dentin dysplasia (CLCN5), small teeth (CACNA1C, GJA1), tooth agenesis (CLCN7), and other impairments.
Osteopetrosis: genetics, treatment and new insights into osteoclast function.
Helfrich et al., Rozzano, Italy. In Nat Rev Endocrinol, 2013
The genetic basis of this disease is now largely uncovered: mutations in TCIRG1, CLCN7, OSTM1, SNX10 and PLEKHM1 lead to osteoclast-rich ARO (in which osteoclasts are abundant but have severely impaired resorptive function), whereas mutations in TNFSF11 and TNFRSF11A lead to osteoclast-poor ARO.
The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.
Zhang et al., Shanghai, China. In J Bone Miner Metab, 2012
Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living autosomal dominant osteopetrosis type II patients.
ClC-7 is a slowly voltage-gated 2Cl(-)/1H(+)-exchanger and requires Ostm1 for transport activity.
Stauber et al., Berlin, Germany. In Embo J, 2011
The authors show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.
Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of ClC-7 to lysosomes.
Maxfield et al., New York City, United States. In Mol Biol Cell, 2011
Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of chloride channel 7 to lysosomes. [ClC7]
Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.
Cooper et al., London, United Kingdom. In J Neuropathol Exp Neurol, 2010
Chloride channel 7 (Clcn7) deficient mice bear a close resemblance to the progressive neuropathologic phenotype of neuronal ceroid lipofuscinosis.
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation.
Jentsch et al., Berlin, Germany. In Science, 2010
study of mice with a point mutation converting ClC-7 into an uncoupled (unc) Cl-conductor; findings show only some roles of ClC-7 Cl-/H+ exchange can be taken over by a Cl- conductance
The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect.
Fendler et al., Frankfurt am Main, Germany. In Plos One, 2009
G213R mutation prevents ClC-7 from being correctly targeted to the lysosomal membrane.
The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomes.
Mindell et al., Bethesda, United States. In Nature, 2008
ClC-7 is a Cl-/H+ antiporter; it constitutes the major Cl- permeability of lysosomes, and it is important in lysosomal acidification.
ClC-7 requires Ostm1 as a beta-subunit to support bone resorption and lysosomal function.
Fuhrmann et al., Hamburg, Germany. In Nature, 2006
both ClC-7 and Ostm1 proteins co-localize in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts
Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins.
Jentsch et al., Hamburg, Germany. In Nature, 2005
Loss-of-function mutations in the endosomal protein ClC-5 impair renal endocytosis and lead to kidney stones, whereas loss of function of the endosomal/lysosomal protein ClC-7 entails osteopetrosis and lysosomal storage disease.
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
Jentsch et al., Hamburg, Germany. In Cell, 2001
Mice deficient for the ubiquitously expressed ClC-7 Cl(-) channel show severe osteopetrosis and retinal degeneration.
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