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CLCN7 Antibody (C-term) Blocking peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
| Primary Accession | P51798 |
|---|---|
| Other Accession | NP_001278.1, NP_001107803.1 |
| Clone Names | 101008233 |
| Gene ID | 1186 |
|---|---|
| Other Names | H(+)/Cl(-) exchange transporter 7, Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7, CLCN7 |
| Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
| 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. |
| Name | CLCN7 (HGNC:2025) |
|---|---|
| Function | Slowly voltage-gated channel mediating the exchange of chloride ions against protons (PubMed:18449189, PubMed:21527911). Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH (PubMed:18449189, PubMed:21527911, PubMed:31155284). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (By similarity). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (By similarity). |
| Cellular Location | Lysosome membrane; Multi-pass membrane protein |
| Tissue Location | Brain and kidney.. |
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Provided below are standard protocols that you may find useful for product applications.
Background
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.
References
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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