Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
The product of CLCN7 belongs to the CLC chloride channel family of proteins. Additionally we are shipping Chloride Channel, Voltage-Sensitive 7 Antibodies (53) and many more products for this protein.
Showing 5 out of 7 products:
we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis (show CSF1 Proteins), RTA (show RBM9 Proteins), renal stones, epilepsy, and blindness.
present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (show CSF1 Proteins) (type II) in the two Chinese families.
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.
The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis (show CSF1 Proteins). with compound heterozygous mutation in the Chinese population.
study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene
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.
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.
analysis demonstrates that CLCN7 and TCIRG1 (show TCIRG1 Proteins) mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis (show CSF1 Proteins)
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 Proteins)-II families.
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 Proteins).
ClC-7 may affect tooth development by directly targeting tooth cells, and regulate tooth eruption through DFC mediated osteoclast pathway.
ClC-7 is essential for osteoclasts to resorb craniofacial bones to enable tooth eruption and root development.
ClC-7 deficiency impacts the development of the dentition and calvaria, but does not significantly disrupt amelogenesis.
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.
Degradation of Alzheimer's amyloid fibrils by microglia requires delivery of chloride channel 7 to lysosomes. [ClC7]
Chloride channel 7 (Clcn7) deficient mice bear a close resemblance to the progressive neuropathologic phenotype of neuronal ceroid lipofuscinosis.
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
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.
ClC-7 knockout mice display neurodegeneration and severe lysosomal storage disease despite unchanged lysosomal pH in cultured neurons.
accelerated ClC-7/Ostm1 (show OSTM1 Proteins) gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 (show OSTM1 Proteins) in lysosomal function and bone resorption
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.
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