Anti-CLCN7 Rabbit Polyclonal Antibody
Product Information
Downloads & Supports
Target
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CLCN7
Host
Storage
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Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles.
Clonality
Clone Number
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-
Isotype
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IgG
Reactivity
Application
Application Details
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WB: 1/500-1/1000 IHC: 1/50-1/100
Immunogen
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Fusion protein of human CLCN7
Molecular Weight
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Calculated MW: 89 kDa; Observed MW: 89 kDa
Formulation
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pH 7.4 PBS, 0.05% NaN3, 40% Glycerol
Form
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Liquid
Gene ID
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1186
Uniprot ID
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P51798
Background
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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
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Synonyms
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chloride voltage-gated channel 7; HOD; CLC7; CLC-7; OPTA2; OPTB4; PPP1R63