|Other Accession||NP_001278.1, NP_001107803.1|
|Other Names||H(+)/Cl(-) exchange transporter 7, Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7, CLCN7|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen.|
|Cellular Location||Lysosome membrane; Multi-pass membrane protein|
|Tissue Location||Brain, testis, muscle and kidney.|
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The product of this gene belongs to the CLC chloridechannel family of proteins. Chloride channels play important rolesin the plasma membrane and in intracellular organelles. This geneencodes chloride channel 7. Defects in this gene are the cause ofosteopetrosis autosomal recessive type 4 (OPTB4), also calledinfantile malignant osteopetrosis type 2 as well as the cause ofautosomal dominant osteopetrosis type 2 (OPTA2), also calledautosomal dominant Albers-Schonberg disease or marble diseaseautosoml dominant. Osteopetrosis is a rare genetic diseasecharacterized by abnormally dense bone, due to defective resorptionof immature bone. OPTA2 is the most common form of osteopetrosis,occurring in adolescence or adulthood.
Furthner, D., et al. Klin Padiatr 222(3):180-183(2010)Phadke, S.R., et al. Indian J. Med. Res. 131, 508-514 (2010) :Pangrazio, A., et al. Hum. Mutat. 31 (1), E1071-E1080 (2010) :Kajiya, H., et al. Pflugers Arch. 458(6):1049-1059(2009)Mazzolari, E., et al. Am. J. Hematol. 84(8):473-479(2009)
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