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  4. Recombinant Human Chloride channel protein ClC-Kb (CLCNKB), partial

Recombinant Human Chloride channel protein ClC-Kb (CLCNKB), partial

  • 中文名稱：
    Recombinant Human Chloride channel protein ClC-Kb(CLCNKB),partial
  • 貨號：
    CSB-YP005488HU
  • 規格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    Recombinant Human Chloride channel protein ClC-Kb(CLCNKB),partial
  • 貨號：
    CSB-EP005488HU
  • 規格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    Recombinant Human Chloride channel protein ClC-Kb(CLCNKB),partial
  • 貨號：
    CSB-EP005488HU-B
  • 規格：
  • 來源：
    E.coli
  • 共軛：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名稱：
    Recombinant Human Chloride channel protein ClC-Kb(CLCNKB),partial
  • 貨號：
    CSB-BP005488HU
  • 規格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    Recombinant Human Chloride channel protein ClC-Kb(CLCNKB),partial
  • 貨號：
    CSB-MP005488HU
  • 規格：
  • 來源：
    Mammalian cell
  • 其他：

產品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    CLCNKB
  • Uniprot No.：
  • 別名：
    Bartter syndrome type 3; Chloride channel Kb; Chloride channel kidney B; Chloride channel protein ClC-Kb; Chloride channel voltage sensitive Kb; ClC K2; ClC-K2; ClCK2; CLCKB; CLCKB_HUMAN; CLCNKB; hClC Kb; hClCKb; MGC24087; OTTHUMP00000011120; OTTHUMP00000011121; RP11 5P18.8
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    Partial
  • 蛋白標簽：
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲存條件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

產品評價

靶點詳情

  • 功能：
    Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms.
  • 基因功能參考文獻：
    1. Taking advantage of the largest number of functional results of CLCNKB mutations, we reveal the functionally important domains and severe mutational spots of the hClC-Kb channel and establish the genotype-phenotype association in classic Bartter's Syndrome. PMID: 28555925
    2. Five patients had 1 or more mutations in CLCNKB, of whom 3 had homozygous mutations and 2 had single heterozygous mutations and only in CLCNKB had hypocalciuria. PMID: 26770037
    3. Single loci of tag Single Nucleotide Polymorphisms of CLCNKA_B are not enough to increase the Essential Hypertension susceptibility, the combination of CLCNKA SNP, salt, marine products, meat, edible oil consumption is associated with elevated risk PMID: 25919862
    4. results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin. PMID: 26453302
    5. These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit PMID: 26063802
    6. we report here for the first time that ClC-Kb disease-causing mutations located around the selectivity filter can result in both reduced surface expression and hyperactivity in heterologous expression systems PMID: 24271511
    7. Case Report: 2 mutations in the CLCNKB gene, leading to a molecular diagnosis of Bartter syndrome type III in case of sudden infant death. PMID: 25923035
    8. study investigated the functional consequences of seven mutations; four mutants carried no current whereas others displayed a 30-60 percent reduction in conductance as compared with wild-type ClC-Kb PMID: 23703872
    9. expands the association between CLCNKB and essential hypertension to a non-European ancestry population PMID: 22578033
    10. This article presents the case of a patient with hypokalaemia caused by CLCNKB gene mutation hard to categorise as GS or BS type 3. PMID: 23345488
    11. CLCNKB mutations are associated with Bartter syndrome. PMID: 21865213
    12. novel missense variant of the CLCNKB gene in two patients with type III Bartter syndrome PMID: 21479528
    13. there was no significant association between the SLC12A3 R904Q variant and the ClC-Kb-T481S variant and essential hypertension in Mongolian and Han populations in Inner Mongolia PMID: 21644212
    14. four mutations in the CLCNKB gene, among patients suffering from bartter and Gitelman syndromes PMID: 21631963
    15. Three novel CLCNKB mutations are identified associated with classic Bartter syndrome with a role in altering the functional properties of ClC-Kb channels. PMID: 19807735
    16. DNA mutational analysis of CLCNKB in Bartter syndrome type 3. PMID: 11865110
    17. presence of Gitelman and Bartter syndrome and CBS phenotypes, in a kindred with the CLCNKB R438H mutation. PMID: 12472765
    18. CLCKB expression is demonstrated in stria vascularis, spiral ligament and limbal fibrocytes, interdental cells and satellite cells of spiral ganglion neurons of mice harboring enhanced green fluorescence protein gene driven by the human CLCKB promoter. PMID: 14502078
    19. Genetic heterogeneity of ClC-Kb chloride channels correlates with functional heterogeneity, which assigns ClC-Kb to a set of genes potentially relevant for polygenic salt-sensitivity of blood pressure regulation. PMID: 14675050
    20. The mutation ClC-Kb(T481S) of the renal epithelial Cl- channel ClC-Kb strongly activates ClC-Kb chloride channel function in vitro and may predispose to the development of essential hypertension in vivo. PMID: 15148291
    21. There is no association with hypertension of CLCNKB polymorphism at a hypertension locus on chromosome 1p36. PMID: 16003175
    22. confirms a weak genotype-phenotype correlation in patients with CLCNKB mutations and supports the founder effect of the A204T mutation in Spain PMID: 16391491
    23. Identification of a novel mutation of the CLCNKB gene, DeltaL130 associated with Bartter syndrome. PMID: 16902263
    24. Results identify large heterozygous deletion mutations in the CLCNKB gene in patients with type III Bartter syndrome. PMID: 17622951
    25. roles of Thr418Ser polymorphism of the CLCNKB gene and Arg904Gln polymorphism in the TSC gene on essential hypertension need to be explored in other ethnic groups PMID: 17997379
    26. In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. PMID: 19096086
    27. Threonine change to serine at position 481 in CLCNKB is associated with essential hypertension in males within the Ghanaian population. PMID: 19226700

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  • 相關疾病：
    Bartter syndrome 3 (BARTS3); Bartter syndrome 4B, neonatal, with sensorineural deafness (BARTS4B)
  • 亞細胞定位：
    Cell membrane; Multi-pass membrane protein.
  • 蛋白家族：
    Chloride channel (TC 2.A.49) family, CLCNKB subfamily
  • 組織特異性：
    Expressed predominantly in the kidney.
  • 數據庫鏈接：

    HGNC: 2027

    OMIM: 602023

    KEGG: hsa:1188

    STRING: 9606.ENSP00000364831

    UniGene: Hs.352243



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