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CLCN7 Antibody

  • 货号：
    CSB-PA001686
  • 规格：
    ￥880
  • 图片：
    • Western Blot analysis of LOVO cells using CLC-7 Polyclonal Antibody
  • 其他：

产品详情

  • Uniprot No.：
    P51798
  • 基因名：
    CLCN7
  • 别名：
    Chloride channel protein 7 antibody; CLC 7 antibody; ClC-7 antibody; ClC7 antibody; CLCN7 antibody; CLCN7_HUMAN antibody; FLJ26686 antibody; FLJ39644 antibody; FLJ46423 antibody; H(+)/Cl(-) exchange transporter 7 antibody; OPTA2 antibody; OPTB4 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human CLC-7.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:40000
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen and may be involved in maintaining lysosomal pH. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.
  • 基因功能参考文献：
    1. In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). PMID: 27187610
    2. The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an autosomal dominant osteopetrosis type II (OPTA2) patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of autosomal recessive 4 in a Chinese population. PMID: 28975865
    3. we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis, RTA, renal stones, epilepsy, and blindness. PMID: 27540713
    4. present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (type II) in the two Chinese families. PMID: 26056022
    5. Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. PMID: 27325559
    6. The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis. with compound heterozygous mutation in the Chinese population. PMID: 26395888
    7. study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene PMID: 26477479
    8. the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. PMID: 25410126
    9. Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease. PMID: 25943117
    10. analysis demonstrates that CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis PMID: 24108692
    11. recurrent p.Gly215Arg mutation and novel missense mutations p.Ala299Val and p.Trp319Arg in the CLCN7 gene were responsible for these three Chinese ADO-II families. PMID: 23953223
    12. ClC-7 does not appear to be crucially involved in gastric acid secretion, which explains the absence of an osteopetrorickets phenotype in CLCN7-related osteopetrosis. PMID: 24103576
    13. Eight mutations, including two reported mutations (R767W and E798FS) and six novel mutations (E313K, A316G, R743W, G741R, W127G and S290F), were detected in the CLCN7 gene from 12 living autosomal dominant osteopetrosis type II patients. PMID: 21947783
    14. The s show that both the aminoterminus and transmembrane span of the Ostm1 beta-subunit are required for ClC-7 Cl(-)/H(+)-exchange, whereas the Ostm1 transmembrane domain suffices for its ClC-7-dependent trafficking to lysosomes. PMID: 21527911
    15. Rat G213R ClC-7 is the analogue of human G215R ClC-7 responsible for autosomal dominant osteopetrosis type II. PMID: 20830208
    16. Elevated serum LDH isoenzymes and AST indicate a disturbance (of uncertain clinical significance) within multiple extraosseous tissues when there is CLCN7 deficiency. PMID: 20499337
    17. We report on the fatal clinical course of a 3 year old male Turkish patient suffering from osteopetrosis caused by a homozygous mutation in the chloride channel gene ClCN7 with developing pancytopenia and severe neurological impairment. PMID: 19904698
    18. That the CLCN7 mutations provoke a phenotype as severe as the one caused by TCIRG1 loss of function suggests the affected residues to be crucial for the function of the ClC-7 chloride channel or chloride/proton-exchanger PMID: 20424301
    19. The characterization of 25 unpublished patients has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects and clinical heterogeneity. PMID: 19953639
    20. clcn7 gene mutation is associated with intermediate autosomal recessive osteopetrosis PMID: 12522560
    21. mutations in the CICN7 gene are responsible for autosomal dominant osteopetrosis, type II, an uncommon sclerosing bone disorder PMID: 12929941
    22. ClCN7 mutations have roles in severe recessive, dominant, and intermediate osteopetrosis PMID: 14584882
    23. ClC-7 has a role in causing autosomal dominant osteopetrosis type II PMID: 15111300
    24. The study indicates that the V418M polymorphism of CLCN7 contributes to the genetic regulation of femoral neck BMD in women. PMID: 16234969
    25. Significant association of CLCN7 polymorphisms with the variance of bone density in postmenopausal women with osteopetrosis. PMID: 16368748
    26. Autosomal dominant osteopetrosis caused by mutations in the CLCN7 gene is a frequently symptomatic disease manifested by a high rate of fracture, osteomyelitis, visual loss, and occasional bone marrow failure. PMID: 17164308
    27. ClC-7 is a Cl-/H+ antiporter; it constitutes the major Cl- permeability of lysosomes, and it is important in lysosomal acidification. PMID: 18449189
    28. Genetic variation in the CLCN7 gene is not a major contributor to the variability in peak BMD at the femoral neck and lumber spine in healthy premenopausal white women and in white men PMID: 18755304
    29. These data demonstrate that ClC-7 is essential for bone resorption, via its role in acidification of the lysosomes and resorption lacunae in osteoclasts PMID: 19070589
    30. Findings suggest that the novel Glu798FS mutation in exon 25 and R767W in exon 24 in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (type II) in two Chinese patients. PMID: 19288050
    31. Mutations in TCIRG1, OSTM1, ClCN7, and TNFRSF11A genes were detected in nine, three, one, and one patientswith infantile malignant osteopetrosis, respectively. PMID: 19507210
    32. results suggest that osteoclastic ClC7 Cl(-) channels are activated under extracellar acidification and suppressed in Clcn7 mutant associated with autosomal osteopetrosis type II during bone resorption. PMID: 19543743

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  • 相关疾病：
    Osteopetrosis, autosomal recessive 4 (OPTB4); Osteopetrosis, autosomal dominant 2 (OPTA2); Osteopetrosis, autosomal recessive 2 (OPTB2)
  • 亚细胞定位：
    Lysosome membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Chloride channel (TC 2.A.49) family, ClC-7/CLCN7 subfamily
  • 组织特异性：
    Brain and kidney.
  • 数据库链接：

    HGNC: 2025

    OMIM: 166600

    KEGG: hsa:1186

    STRING: 9606.ENSP00000372193

    UniGene: Hs.459649