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INVS Antibody

  • 货号：
    CSB-PA011769GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y283
  • 基因名：
  • 别名：
    INVS antibody; INV antibody; NPHP2 antibody; Inversin antibody; Inversion of embryo turning homolog antibody; Nephrocystin-2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human INVS
  • 免疫原种属：
    Homo sapiens (Human)
  • 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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC,IF
  • 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：
    Required for normal renal development and establishment of left-right axis. Probably acts as a molecular switch between different Wnt signaling pathways. Inhibits the canonical Wnt pathway by targeting cytoplasmic disheveled (DVL1) for degradation by the ubiquitin-proteasome. This suggests that it is required in renal development to oppose the repression of terminal differentiation of tubular epithelial cells by Wnt signaling. Involved in the organization of apical junctions in kidney cells together with NPHP1, NPHP4 and RPGRIP1L/NPHP8. Does not seem to be strictly required for ciliogenesis.
  • 基因功能参考文献：
    1. Collectively, these results indicated that inversin might promote the tumorigenicity of lung cancer cells and serve as a novel therapeutic target of non-small cell lung cancer. PMID: 28618971
    2. Akt phosphorylates inversin at amino acids 864-866 that are required not only for Akt interaction, but also for inversin dimerization. PMID: 27220846
    3. Truncating mutations in NPHP2 gene is associated with nephronophthisis-related ciliopathy. PMID: 23559409
    4. INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. PMID: 20798123
    5. has conserved ankyrin repeat and IQ domains and interacts with calmodulin PMID: 11941489
    6. analysis of a homozygous mutation in exon 13 of inversin (INVS) (C2719T, R907X) in a patient with retinitis pigmentosa and renal failure [case report] PMID: 16522655
    7. Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans. PMID: 16642442
    8. new mutant genes might be responsible for the early onset of ESRD in infantile NPHP with features of JBTS PMID: 17216245
    9. Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH). PMID: 18218308

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  • 相关疾病：
    Nephronophthisis 2 (NPHP2)
  • 亚细胞定位：
    Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, spindle. Membrane; Peripheral membrane protein. Nucleus. Cell projection, cilium. Note=Associates with several components of the cytoskeleton including ciliary, random and polarized microtubules. During mitosis, it is recruited to mitotic spindle. Frequently membrane-associated, membrane localization is dependent upon cell-cell contacts and is redistributed when cell adhesion is disrupted after incubation of the cell monolayer with low-calcium/EGTA medium.
  • 组织特异性：
    Widely expressed. Strongly expressed in the primary cilia of renal tubular cells.
  • 数据库链接：

    HGNC: 17870

    OMIM: 243305

    KEGG: hsa:27130

    STRING: 9606.ENSP00000262457

    UniGene: Hs.558477