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BSND Antibody

  • 货号：
    CSB-PA837883ESR1HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human breast cancer using CSB-PA837883ESR1HU at dilution of 1:100
    • Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA837883ESR1HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) BSND Polyclonal antibody
  • Uniprot No.：
    Q8WZ55
  • 基因名：
    BSND
  • 别名：
    BART antibody; Bartter syndrome infantile with sensorineural deafness antibody; Bartter syndrome; infantile; with sensorineural deafness (Barttin) antibody; Barttin antibody; Bsnd antibody; BSND_HUMAN antibody; deafness; autosomal recessive 73 antibody; DFNB 73 antibody; DFNB73 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Barttin protein (54-320AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA, IHC
  • 推荐稀释比：
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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：
    Functions as a beta-subunit for CLCNKA and CLCNKB chloride channels. In the kidney CLCNK/BSND heteromers mediate chloride reabsorption by facilitating its basolateral efflux. In the stria, CLCNK/BSND channels drive potassium secretion by recycling chloride for the basolateral SLC12A2 cotransporter.
  • 基因功能参考文献：
    1. These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma PMID: 28470573
    2. 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
    3. 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
    4. R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity. PMID: 26013830
    5. BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools. PMID: 21541222
    6. Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene. PMID: 21269598
    7. The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins. PMID: 12761627
    8. ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear. PMID: 15496163
    9. A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain. PMID: 16572343
    10. Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness PMID: 16773427
    11. Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels PMID: 16849430
    12. BSND-V43I, a common variant conferring partial loss of function, exhibits significant deviation from equilibrium in the Ghanaian normotensive control population PMID: 17954364
    13. Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype. PMID: 18094726
    14. Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes. PMID: 18776122
    15. Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. PMID: 18843510
    16. 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
    17. Mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. PMID: 19646679
    18. The molecular basis of DFNB73 autosomal recessive deafness is reported. PMID: 19646679

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  • 相关疾病：
    Bartter syndrome 4A, neonatal, with sensorineural deafness (BARTS4A)
  • 亚细胞定位：
    Cell membrane; Multi-pass membrane protein. Cytoplasm.
  • 组织特异性：
    Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear.
  • 数据库链接：

    HGNC: 16512

    OMIM: 602522

    KEGG: hsa:7809

    STRING: 9606.ENSP00000360312

    UniGene: Hs.151291