在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

NPHP4 Antibody

  • 中文名稱:
    NPHP4兔多克隆抗體
  • 貨號:
    CSB-PA870638
  • 規格:
    ¥2024
  • 圖片:
    • Immunohistochemistry analysis of paraffin-embedded human colon carcinoma tissue using NPHP4 antibody.
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) NPHP4 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    NPHP4
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Synthesized peptide derived from internal of Human NPHP4.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 克隆類型:
    Polyclonal
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA,IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:50-1:100
  • Protocols:
  • 儲存條件:
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期:
    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.
  • 用途:
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能:
    Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1. In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling. Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ.
  • 基因功能參考文獻:
    1. Study provides evidence that KIF13B and NPHP4 are both required for establishment of a specialized caveolin-1 membrane microdomain at the ciliary transition zone, which is essential for Shh-induced accumulation of SMO in the primary cilium as well as for activation of GLI-mediated target gene expression. PMID: 28134340
    2. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 and NPHP4 cause unusually severe form of infantile nephronophthisis. PMID: 28392475
    3. homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility PMID: 23574405
    4. The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling. PMID: 22654112
    5. NPHP4 mutations are associated with cardiac laterality defects and heterotaxy. PMID: 22550138
    6. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling. PMID: 21555462
    7. These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population. PMID: 20844548
    8. Observational study of gene-disease association. (HuGE Navigator) PMID: 20844548
    9. Observational study of gene-disease association. (HuGE Navigator) PMID: 21068128
    10. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
    11. Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans. PMID: 12205563
    12. Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis PMID: 12244321
    13. part of multifunctional complex localized in actin- and microtubule-based structures PMID: 15661758
    14. two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations PMID: 15776426
    15. retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina PMID: 16339905
    16. In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity. PMID: 17855640
    17. Two novel homozygous missense sequence variants in exons 18 and 21 were detected in a consanguineous family with nephronophthisis PMID: 17954299
    18. Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) PMID: 15776426
    19. the apparent occurrence of an unusual TG 3' splice site in intron 20 is discussed PMID: 17672918
    20. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans. PMID: 12205563

    顯示更多

    收起更多

  • 相關疾病:
    Nephronophthisis 4 (NPHP4); Senior-Loken syndrome 4 (SLSN4)
  • 亞細胞定位:
    Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, tight junction. Nucleus.
  • 蛋白家族:
    NPHP4 family
  • 組織特異性:
    Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and lung.
  • 數據庫鏈接:

    HGNC: 19104

    OMIM: 606966

    KEGG: hsa:261734

    STRING: 9606.ENSP00000367398

    UniGene: Hs.462348



主站蜘蛛池模板: 久久综合88熟人妻| 国内精品视这里只有精品| 中字幕久久久人妻熟女天美传媒 | 女乱高潮久久久久久爽爽| 无码国产成人午夜电影观看| 成年黄页网站大全免费无码| 国产熟妇乱子伦视频在线观看| 制服丝袜另类专区制服| 国产综合无码一区二区色蜜蜜 | 久艹视频免费看| 中国少妇大p毛茸茸| 国产无遮挡18禁无码网站免费| 97色偷偷色噜噜狠狠爱网站| 国产sm主人调教女m视频| 越猛烈欧美xx00动态图| 少妇人妻久久无码专区| 色综合天天综合网国产成人网| 50路60路老熟妇啪啪| 亚洲国产另类久久久精品黑人| 日本精品αv中文字幕| 欧美激性欧美激情在线| 少妇精品久久久一区二区三区| 熟女人妻大叫粗大受不了| 久久精品女人天堂av麻| 国产av福利第一精品| 乱人伦中文无码视频| 伊人久久大香线蕉综合网站 | 3344永久在线观看视频| 热re99久久6国产精品免费| 玩弄白嫩少妇xxxxx性| 色综合色狠狠天天综合色| 色噜噜亚洲男人的天堂| 亚洲国产桃花岛一区二区| 女人扒开屁股桶爽30分钟| 国产麻豆放荡av剧情演绎| 国内精品伊人久久久久影院对白| 免费午夜福利不卡片在线播放| 国产精品精华液网站| 亚洲午夜无码极品久久| 久久精品娱乐亚洲领先| 久久国产精品波多野结衣av|