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Recombinant Human Nephrocystin-3 (NPHP3), partial

  • 中文名稱(chēng):
    人NPHP3重組蛋白
  • 貨號(hào):
    CSB-YP768767HU
  • 規(guī)格:
  • 來(lái)源:
    Yeast
  • 其他:
  • 中文名稱(chēng):
    人NPHP3重組蛋白
  • 貨號(hào):
    CSB-EP768767HU
  • 規(guī)格:
  • 來(lái)源:
    E.coli
  • 其他:
  • 中文名稱(chēng):
    人NPHP3重組蛋白
  • 貨號(hào):
    CSB-EP768767HU-B
  • 規(guī)格:
  • 來(lái)源:
    E.coli
  • 共軛:
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他:
  • 中文名稱(chēng):
    人NPHP3重組蛋白
  • 貨號(hào):
    CSB-BP768767HU
  • 規(guī)格:
  • 來(lái)源:
    Baculovirus
  • 其他:
  • 中文名稱(chēng):
    人NPHP3重組蛋白
  • 貨號(hào):
    CSB-MP768767HU
  • 規(guī)格:
  • 來(lái)源:
    Mammalian cell
  • 其他:

產(chǎn)品詳情

  • 純度:
    >85% (SDS-PAGE)
  • 基因名:
    NPHP3
  • Uniprot No.:
  • 別名:
    Meckel syndrome, type 7; MKS7; Nephrocystin-3; nephronophthisis 3 (adolescent); NPH3; Nphp3; NPHP3_HUMAN; pcy; RHPD
  • 種屬:
    Homo sapiens (Human)
  • 蛋白長(zhǎng)度:
    Partial
  • 蛋白標(biāo)簽:
    Tag?type?will?be?determined?during?the?manufacturing?process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 產(chǎn)品提供形式:
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 復(fù)溶:
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 儲(chǔ)存條件:
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保質(zhì)期:
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 貨期:
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事項(xiàng):
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet :
    Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 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.
  • 基因功能參考文獻(xiàn):
    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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  • 相關(guān)疾?。?/div>
    Nephronophthisis 3 (NPHP3); Renal-hepatic-pancreatic dysplasia 1 (RHPD1); Meckel syndrome 7 (MKS7)
  • 亞細(xì)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.
  • 組織特異性:
    Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. Expressed at very low level in brain and lung.
  • 數(shù)據(jù)庫(kù)鏈接:

    HGNC: 7907

    OMIM: 208540

    KEGG: hsa:27031

    STRING: 9606.ENSP00000338766

    UniGene: Hs.511991



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