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Mouse Anti-CLCN7 Recombinant Antibody (CBYY-C3009) (CBMAB-C4452-YY)

This product is mouse antibody that recognizes CLC7. The antibody CBYY-C3009 can be used for immunoassay techniques such as: WB, IP, ELISA
See all CLCN7 antibodies

Summary

Host Animal
Mouse
Specificity
Mouse, Rat, Human
Clone
CBYY-C3009
Application
WB, IP, ELISA

Basic Information

Specificity
Mouse, Rat, Human
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Chloride Voltage-Gated Channel 7
Entrez Gene ID
Human1186
Mouse26373
Rat29233
UniProt ID
HumanP51798
MouseO70496
RatP51799
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).
Biological Process
Ion transmembrane transport Source: Reactome
Cellular Location
Lysosome membrane
Involvement in disease
Osteopetrosis, autosomal recessive 4 (OPTB4):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves.
Osteopetrosis, autosomal dominant 2 (OPTA2):
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. It is characterized by sclerosis, predominantly involving the spine, the pelvis and the skull base.
Hypopigmentation, organomegaly, and delayed myelination and development (HOD):
An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles.
Topology
Cytoplasmic: 1-126
Helical: 127-159
Helical: 174-197
Helical: 206-213
Helical: 223-241
Helical: 247-264
Helical: 288-300
Helical: 304-312
Helical: 322-341
Helical: 375-405
Helical: 410-432
Helical: 487-507
Helical: 512-535
Helical: 545-559
Loop between two helices: 560-562
Helical: 563-574
Loop between two helices: 575-578
Helical: 579-597
Cytoplasmic: 598-805

Ji, M., Duan, X., Han, X., Sun, J., & Zhang, D. (2021). Exogenous transforming growth factor‑β1 prevents the inflow of fluoride to ameleoblasts through regulation of voltage‑gated chloride channels 5 and 7. Experimental and Therapeutic Medicine, 21(6), 1-9.

Nicoli, E. R., Weston, M. R., Hackbarth, M., Becerril, A., Larson, A., Zein, W. M., ... & Majcherska, M. M. (2019). Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification. The American Journal of Human Genetics, 104(6), 1127-1138.

Hennig, A. F., Roessler, U., Boiti, F., von der Hagen, M., Gossen, M., Kornak, U., & Stachelscheid, H. (2019). Generation of a human induced pluripotent stem cell line (BIHi002-A) from a patient with CLCN7-related infantile malignant autosomal recessive osteopetrosis. Stem cell research, 35, 101367.

Kang, S., Kang, Y. K., Lee, J. A., Kim, D. H., & Lim, J. S. (2019). A case of autosomal dominant osteopetrosis type 2 with a CLCN7 gene mutation. Journal of clinical research in pediatric endocrinology, 11(4), 439.

Yang, Y., Ye, W., Guo, J., Zhao, L., Tu, M., Zheng, Y., & Li, L. (2019). CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis. Molecular medicine reports, 19(1), 595-600.

Kim, S. Y., Lee, Y., Kang, Y. E., Kim, J. M., Joung, K. H., Lee, J. H., ... & Yi, H. S. (2018). Genetic analysis of CLCN7 in an old female patient with type II autosomal dominant osteopetrosis. Endocrinology and Metabolism, 33(3), 380-386.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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