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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Antibody detects endogenous levels of total CLCN7.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Chloride channel 7 alpha subunit; Chloride channel protein 7; ClC-7; CLCN-7; H(+)/Cl(-) exchange transporter 7
基因别名: AA409691; AW538136; ClC-7; Clc7; CLCN7; D17Wsu51e
UniProt ID: (Rat) P51799, (Mouse) O70496
Entrez Gene ID: (Rat) 29233, (Mouse) 26373