CLCN7 Polyclonal Antibody

Background:
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.

Research Area: Metabolism, Signal Transduction

Synonyms:
CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63

Immunogen: Recombinant fusion protein of human CLCN7 (NP_001278.1).

Swissprot: P51798
Gene ID: 1186

Purification Method: Affinity purification

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

Concentration: 1 mg/mL
Dilution: IHC 1:50-1:200

Storage:
Store at -20°C. Avoid freeze / thaw cycles.