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: 97一区二区国产好的精华液| 无码精品a∨在线观看中文| 亚洲a∨国产av综合av下载| 天堂国产一区二区三区| 伊人久久大香线蕉av综合| 在线播放亚洲人成电影| 免费人成在线观看| 热re99久久精品国产66热| 国产成人乱色伦区| 亚洲日韩精品无码专区加勒比海| 国产精品久久久久久av| 国产三级久久久精品麻豆三级| 午夜片无码区在线观看视频| av无码中出一区二区三区| 亚洲风情亚aⅴ在线发布| 久久天天躁夜夜躁狠狠躁2022| 亚洲高清专区日韩精品| 亚洲成_人网站图片| 女人与拘做受全过程免费视频| 亚洲www啪成人一区二区麻豆| 午夜性开放午夜性爽爽| 好日子在线观看视频大全免费动漫| 无码人妻久久一区二区三区app| 人禽伦免费交视频播放| 熟女精品视频一区二区三区| 亚洲欧美综合精品成人网| 狠狠做五月深爱婷婷| 99久热在线精品视频观看| 日产幕无线码三区在线| 国产精品自在线拍亚洲另类| 无码精品国产va在线观看| 人人妻人人澡人人爽超污| 国产在线观看超清无码视频一区二区| 欧美日韩精品成人网站二区| 久久久一本精品99久久精品88| 成人毛片无码一区二区三区| 成人国产mv免费视频| 日本欧美一区二区三区高清| 亚洲午夜精品久久久久久浪潮| 国产福利一区二区三区在线观看 | 欧美变态另类xxxx|