Catalog No.
YHE87201
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Phe597-Thr805
Predicted molecular weight
26.25 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
P51798
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for one week. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Chloride channel 7 alpha subunit, CLCN7, ClC-7, Chloride channel protein 7, H(+)/Cl(-) exchange transporter 7
[Clinical and genetic characteristics of osteopetrosis in children]., PMID:40462430
Identification of a novel mutation in the CLCN7 gene in pediatric osteopetrosis: case report., PMID:40276109
SUGAR-seq reveals the transcriptome and N-linked glycosylation landscape of mononuclear phagocytes at single-cell resolution in a mouse model of autosomal dominant osteopetrosis type 2., PMID:40165215
Sorting nexin 10 regulates lysosomal ionic homeostasis via ClC-7 by controlling PI(3,5)P2., PMID:40138451
Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers., PMID:40018371
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family., PMID:39994654
Development and evaluation of siRNA-mediated gene silencing strategies for ADO2 therapy utilizing iPSCs model and DMPC-SPIONs delivery system., PMID:39934917
A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients., PMID:39875016
Downregulation of chloride voltage-gated channel 7 contributes to hyperalgesia following spared nerve injury., PMID:39276933
Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis., PMID:39056574
Abnormal dental follicle cells: A crucial determinant in tooth eruption disorders (Review)., PMID:39027997
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease., PMID:38838776
Effect of Allele-Specific Clcn7G213R siRNA Delivered Via a Novel Nanocarrier on Bone Phenotypes in ADO2 Mice on 129S Background., PMID:38733412
Osteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND., PMID:38593953
Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia., PMID:38494246
The PDE4 Inhibitors Roflumilast and Rolipram Rescue ADO2 Osteoclast Resorption Dysfunction., PMID:38483547
Galectin-8 modulates human osteoclast activity partly through isoform-specific interactions., PMID:38395460
Effect of parental adverse childhood experiences on intergenerational DNA methylation signatures from peripheral blood mononuclear cells and buccal mucosa., PMID:38342906
Effect of Roflumilast, a Selective PDE4 Inhibitor, on Bone Phenotypes in ADO2 Mice., PMID:38300304
The Cl- transporter ClC-7 is essential for phagocytic clearance by microglia., PMID:38294065
Osteopetrosis complicated by multilevel spondylolysis., PMID:38292800
Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene., PMID:38261998
Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl-/H+ Exchanger ClC-7., PMID:38136669
[Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis]., PMID:37899344
Genotype-phenotype analysis of selective failure of tooth eruption-A systematic review., PMID:37448157
CRISPR/Cas9-Mediated Gene Correction in Osteopetrosis Patient-Derived iPSCs., PMID:37395026
Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis., PMID:37373559
The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants., PMID:37363915
Autosomal dominant osteopetrosis., PMID:36863500
CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis., PMID:36513280
Hematopoietic stem cell transplantation, a curative approach in infantile osteopetrosis., PMID:36470372
Haemodynamic stroke in a rare adult presentation of osteopetrosis., PMID:36162965
Identification of key genes for hypertrophic cardiomyopathy using integrated network analysis of differential lncRNA and gene expression., PMID:35990977
Bone marrow transplantation as a therapy for autosomal dominant osteopetrosis type 2 in mice., PMID:35959867
Anterior cruciate ligament rupture in a patient with Albers-Schonberg disease., PMID:35902893
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene., PMID:35618777
Clinical and Genetic Features of Chinese Adult Patients With Chronic Non-Bacterial Osteomyelitis: A Single Center Report., PMID:35422809
Natural History of Type II Autosomal Dominant Osteopetrosis: A Single Center Retrospective Study., PMID:35370969
The FACT complex facilitates expression of lysosomal and antioxidant genes through binding to TFEB and TFE3., PMID:35230915
Puerarin specifically disrupts osteoclast activation via blocking integrin-β3 Pyk2/Src/Cbl signaling pathway., PMID:35228997
The Role of the Lysosomal Cl-/H+ Antiporter ClC-7 in Osteopetrosis and Neurodegeneration., PMID:35159175
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)., PMID:35052464
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants., PMID:34753502
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis., PMID:34624559
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis., PMID:34545712
Chloroquine increases osteoclast activity in vitro but does not improve the osteopetrotic bone phenotype of ADO2 mice., PMID:34464779
Reelin depletion alleviates multiple myeloma bone disease by promoting osteogenesis and inhibiting osteolysis., PMID:34433809
CLCN7-related neuropathic infantile osteopetrosis in siblings., PMID:34258831
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis., PMID:33905594
Membrane Transport Proteins in Osteoclasts: The Ins and Outs., PMID:33718388
For research use only. Not for human or drug use.
