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.
Pack Size | 100ul, 1ml, 20ul |
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Applications | ELISA, WB |
Host Species | Rabbit |
Ig Isotype | IgG |
Antibody Type | Polyclonal Antibody |
Organism Species | Human |
Product Synonyms | CLCN7 |
Observed Mol Wt | 89kDa |
Alternative Names | HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63; CLCN7 |
Immunogen (Antigen) | Recombinant protein |
Format | Liquid |
Buffer Formulation | 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
Reactivity | Human, Mouse, Rat |
Uniprot ID | 1186 |
Gene ID | P51798 |
Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
Usage | For Research Use Only. Not for diagnostics or human use. |
Shelf Life | 12 months at time of shipping |
Shipping | Shipped in Dry Ice at -20 Degree Celsius |
Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
Research Areas | Cancer, Cell Biology, Immunology |
KD/KO Validated | KD Validated |
Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |
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