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Chloride Channel, Voltage-Sensitive 7 (CLCN7) ELISA Kits

The product of CLCN7 belongs to the CLC chloride channel family of proteins. Additionally we are shipping Chloride Channel, Voltage-Sensitive 7 Antibodies (54) and Chloride Channel, Voltage-Sensitive 7 Proteins (7) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Mouse CLCN7 CLCN7 26373 O70496
Anti-Human CLCN7 CLCN7 1186 P51798
Anti-Rat CLCN7 CLCN7 29233 P51799
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More ELISA Kits for Chloride Channel, Voltage-Sensitive 7 Interaction Partners

Mouse (Murine) Chloride Channel, Voltage-Sensitive 7 (CLCN7) interaction partners

  1. ClC-7 is essential for osteoclasts to resorb craniofacial bones to enable tooth eruption and root development.

  2. ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis.

  3. ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis (show CSF1 ELISA Kits).

  4. Findings in this knockout mouse model prove that osteopetrotic compression of the brain is not responsible for neuronal and retinal degeneration in CLCN7-deficient mice; rather, they suggest that neurotoxicity is most likely due to lysosomal dysfunction.

  5. Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of chloride channel 7 to lysosomes. [ClC7]

  6. Chloride channel 7 (Clcn7) deficient mice bear a close resemblance to the progressive neuropathologic phenotype of neuronal ceroid lipofuscinosis.

  7. 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

  8. These experiments demonstrate that lysosomal pathology is a cell-autonomous consequence of ClC-7 disruption and that ClC-7 is important for lysosomal protein degradation.

  9. ClC-7 knockout mice display neurodegeneration and severe lysosomal storage disease despite unchanged lysosomal pH in cultured neurons.

  10. both ClC-7 and Ostm1 (show OSTM1 ELISA Kits) proteins co-localize in late endosomes and lysosomes of various tissues, as well as in the ruffled border of bone-resorbing osteoclasts

Cow (Bovine) Chloride Channel, Voltage-Sensitive 7 (CLCN7) interaction partners

  1. accelerated ClC-7/Ostm1 (show OSTM1 ELISA Kits) gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 (show OSTM1 ELISA Kits) in lysosomal function and bone resorption

Human Chloride Channel, Voltage-Sensitive 7 (CLCN7) interaction partners

  1. study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene

  2. the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene.

  3. Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease.

  4. analysis demonstrates that CLCN7 and TCIRG1 (show TCIRG1 ELISA Kits) mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis (show CSF1 ELISA Kits)

  5. recurrent p.Gly215Arg mutation and novel missense mutations p.Ala299Val and p.Trp319Arg in the CLCN7 gene were responsible for these three Chinese ADO (show ADO ELISA Kits)-II families.

  6. ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis (show CSF1 ELISA Kits).

  7. 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 (show CSF1 ELISA Kits) type II patients.

  8. The authors show that both the aminoterminus and transmembrane span of the Ostm1 (show OSTM1 ELISA Kits) beta-subunit (show POLG ELISA Kits) are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 (show OSTM1 ELISA Kits) transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes.

  9. Rat G213R ClC-7 is the analogue of human G215R ClC-7 responsible for autosomal dominant osteopetrosis (show CSF1 ELISA Kits) type II.

  10. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency.

Chloride Channel, Voltage-Sensitive 7 (CLCN7) Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with CLCN7

  • chloride channel 7 (Clcn7) antibody
  • chloride channel 7 (CLCN7) antibody
  • chloride channel, voltage-sensitive 7 (CLCN7) antibody
  • chloride channel, voltage-sensitive 7 (Clcn7) antibody
  • AA409691 antibody
  • AW538136 antibody
  • CLC-7 antibody
  • CLC7 antibody
  • D17Wsu51e antibody
  • OPTA2 antibody
  • OPTB4 antibody
  • PPP1R63 antibody

Protein level used designations for CLCN7

H(+)/Cl(-) exchange transporter 7 , chloride channel 7 alpha subunit , chloride channel protein 7 , protein phosphatase 1, regulatory subunit 63

GENE ID SPECIES
26373 Mus musculus
513545 Bos taurus
1186 Homo sapiens
29233 Rattus norvegicus
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