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: 俄罗斯大荫蒂女人毛茸茸| 超薄肉色丝袜一区二区| 国模冰莲自慰肥美胞极品人体图| 久久99国产综合精品免费| 综合在线 亚洲 成人 欧美| 蜜乳av久久久久久久久久久| 成人午夜福利免费体验区| 在线 | 一区二区三区四区| yw尤物av无码国产在线观看| 日韩人妻熟女中文字幕aⅴ春菜| 无码人妻久久1区2区3区| 欧美大片aaaaa免费观看| 45分钟免费真人视频| 日韩在线永久免费播放| 天堂网在线www资源| 亚洲综合色无码| 无码av免费精品一区二区三区 | 人牛交vide欧美xxxx| 无码8090精品久久一区| 婷婷丁香六月激情综合啪| 久久成人a毛片免费观看网站| 日韩av无码中文字幕| 国产av人人夜夜澡人人爽| 狠狠亚洲色一日本高清色| 少妇高潮太爽了在线视频| 亚洲国产精品成人久久| 久久香港三级台湾三级播放| 东京道一本热中文字幕| 精品无码中文字幕在线| 国产精品白丝av网站| 午夜精品久久久久久久99老熟妇| 色翁荡熄又大又硬又粗又视频图片 | 亚洲中文字幕av不卡无码| 国产免费久久精品99reswag | 手机在线亚洲国产精品| 国产成人av男人的天堂| 男女高潮又爽又黄又无遮挡| 无码h黄动漫在线播放网站| 国产精品爽爽va吃奶在线观看| 奇米影视7777久久精品| 男人用嘴添女人私密视频|