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NPHP3 Antibody

  • 货号：
    CSB-PA768767ESR2HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 图片：
    • Immunohistochemistry of paraffin-embedded human skeletal muscle tissue using CSB-PA768767ESR2HU at dilution of 1:100
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) NPHP3 Polyclonal antibody
  • Uniprot No.：
    Q7Z494
  • 基因名：
    NPHP3
  • 别名：
    Meckel syndrome, type 7 antibody; MKS7 antibody; Nephrocystin-3 antibody; nephronophthisis 3 (adolescent) antibody; NPH3 antibody; Nphp3 antibody; NPHP3_HUMAN antibody; pcy antibody; RHPD antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Nephrocystin-3 protein (1-130AA)
  • 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：
    Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements.
  • 基因功能参考文献：
    1. Case Report: NPHP3 related nephronophthisis manifesting in the fetal period. PMID: 28921755
    2. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. PMID: 28392475
    3. NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype. PMID: 26184788
    4. a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings. PMID: 24776604
    5. The known phenotype of NPHP3 mutation caused renal-hepatic-pancreatic dysplasia has been extended to include skeletal and CNS anomalies. PMID: 23686967
    6. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3. PMID: 23793029
    7. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. PMID: 12872122
    8. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
    9. NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects. PMID: 18371931
    10. screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations PMID: 19177160
    11. The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract. PMID: 19303681

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  • 相关疾病：
    Nephronophthisis 3 (NPHP3); Renal-hepatic-pancreatic dysplasia 1 (RHPD1); Meckel syndrome 7 (MKS7)
  • 亚细胞定位：
    Cell projection, cilium. Note=Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.
  • 组织特异性：
    Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.
  • 数据库链接：

    HGNC: 7907

    OMIM: 208540

    KEGG: hsa:27031

    STRING: 9606.ENSP00000338766

    UniGene: Hs.511991