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

The product of CLCN7 belongs to the CLC chloride channel family of proteins. Zusätzlich bieten wir Ihnen Chloride Channel, Voltage-Sensitive 7 Antikörper (53) und Chloride Channel, Voltage-Sensitive 7 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Human CLCN7 CLCN7 1186 P51798
Anti-Maus CLCN7 CLCN7 26373 O70496
Anti-Ratte CLCN7 CLCN7 29233 P51799
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Weitere ELISA Kits für Chloride Channel, Voltage-Sensitive 7 Interaktionspartner

Human Chloride Channel, Voltage-Sensitive 7 (CLCN7) Interaktionspartner

  1. The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an autosomal dominant osteopetrosis (zeige CSF1 ELISA Kits) type II (OPTA2) patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of autosomal recessive 4 in a Chinese population.

  2. we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis (zeige CSF1 ELISA Kits), RTA (zeige RBM9 ELISA Kits), renal stones, epilepsy, and blindness.

  3. present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (zeige CSF1 ELISA Kits) (type II) in the two Chinese families.

  4. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified.

  5. The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis (zeige CSF1 ELISA Kits). with compound heterozygous mutation in the Chinese population.

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

  7. 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.

  8. 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.

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

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

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

  1. ClC-7 may affect tooth development by directly targeting tooth cells, and regulate tooth eruption through DFC mediated osteoclast pathway.

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

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

  4. 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 (zeige CSF1 ELISA Kits).

  5. 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.

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

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

  8. 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

  9. 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.

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

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

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

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

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit CLCN7

  • chloride voltage-gated channel 7 (CLCN7) Antikörper
  • chloride channel, voltage-sensitive 7 (Clcn7) Antikörper
  • chloride voltage-gated channel 7 (Clcn7) Antikörper
  • chloride channel, voltage-sensitive 7 L homeolog (clcn7.L) Antikörper
  • chloride channel 7 (clcn7) Antikörper
  • chloride channel, voltage-sensitive 7 (clcn7) Antikörper
  • chloride channel protein 7 (CpipJ_CPIJ008618) Antikörper
  • AA409691 Antikörper
  • AW538136 Antikörper
  • ClC-7 Antikörper
  • CLC7 Antikörper
  • CLCN7 Antikörper
  • D17Wsu51e Antikörper
  • im:7155923 Antikörper
  • MGC80627 Antikörper
  • OPTA2 Antikörper
  • OPTB4 Antikörper
  • PPP1R63 Antikörper
  • zgc:153490 Antikörper

Bezeichner auf Proteinebene für CLCN7

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

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513545 Bos taurus
553351 Danio rerio
733969 Xenopus (Silurana) tropicalis
6041049 Culex quinquefasciatus
100429296 Macaca mulatta
453817 Pan troglodytes
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