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  4. Recombinant Human WD repeat-containing protein 35 (WDR35), partial

Recombinant Human WD repeat-containing protein 35 (WDR35), partial

  • 中文名稱：
    人WDR35重組蛋白
  • 貨號：
    CSB-YP879071HU
  • 規(guī)格：
  • 來源：
    Yeast
  • 其他：
  • 中文名稱：
    人WDR35重組蛋白
  • 貨號：
    CSB-EP879071HU
  • 規(guī)格：
  • 來源：
    E.coli
  • 其他：
  • 中文名稱：
    人WDR35重組蛋白
  • 貨號：
    CSB-EP879071HU-B
  • 規(guī)格：
  • 來源：
    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：
    人WDR35重組蛋白
  • 貨號：
    CSB-BP879071HU
  • 規(guī)格：
  • 來源：
    Baculovirus
  • 其他：
  • 中文名稱：
    人WDR35重組蛋白
  • 貨號：
    CSB-MP879071HU
  • 規(guī)格：
  • 來源：
    Mammalian cell
  • 其他：

產(chǎn)品詳情

  • 純度：
    >85% (SDS-PAGE)
  • 基因名：
    WDR35
  • Uniprot No.：
  • 別名：
    Intraflagellar transport protein 121 homolog; KIAA1336; MGC33196; Naofen; WD repeat domain 35; WD repeat-containing protein 35; WDR35; WDR35_HUMAN
  • 種屬：
    Homo sapiens (Human)
  • 蛋白長度：
    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)品評價(jià)

靶點(diǎn)詳情

  • 功能：
    As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking. May promote CASP3 activation and TNF-stimulated apoptosis.
  • 基因功能參考文獻(xiàn)：
    1. Homozygous missense mutation in WDR35 gene is associated with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia ciliopathy. PMID: 29174089
    2. The observations of the Sensenbrenner syndrome patient in this study provide additional clinical data and expand the molecular spectrum of Sensenbrenner syndrome. Moreover, the two variants identified in the proband provide further evidence for the WDR35 mutations as the most common cause of this rare syndrome. PMID: 29134781
    3. A differential diagnosis of Sensenbrenner Syndrome was made after a novel homozygous missense mutation in WDR35 was identified in a patient with initial diagnosis of Jeune syndrome. PMID: 28870638
    4. Wdr35 regulates cilium assembly by selectively regulating transport of distinct cargoes. PMID: 27806291
    5. Psychomotor development was apparently normal. Molecular analysis in one of the affected individuals identified compound heterozygosity for a nonsense (c.1922T>G, p.(Leu641*)) and missense (c.2522A>T, p.(Asp841Val)) variants in WDR35. We PMID: 28332779
    6. Splicing variants in WDR35, and possibly in other IFT-A components, underlie a number of Ellis-van Creveld syndrome cases by disrupting targeting of both the EvC complex and Smoothened to cilia. PMID: 25908617
    7. report on the detection of novel WDR35 mutations in two unrelated cranioectodermal dysplasia patients PMID: 22486404
    8. A pathogenic WDR35 mutation was identified in a family with a complex clinical presentation that includes significant overlap of the phenotypes described in Sensenbrenner syndrome and the unclassified short-rib polydactyly syndromes. PMID: 22987818
    9. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that short-rib polydactyly mutations affect key structural elements in WDR35. PMID: 21473986
    10. WDR35 is homologous to TULP4 (from the Tubby superfamily) and has previously been characterized as an intraflagellar transport component, confirming that Sensenbrenner syndrome is a ciliary disorder. PMID: 20817137
    11. These results indicated that naofen may function as a novel modulator activating caspase-3, and promoting TNF-alpha-stimulated apoptosis. PMID: 20193664

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  • 相關(guān)疾病：
    Cranioectodermal dysplasia 2 (CED2); Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7)
  • 亞細(xì)胞定位：
    Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, cilium axoneme. Cytoplasm, cytoskeleton, cilium basal body.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 29250

    OMIM: 613602

    KEGG: hsa:57539

    STRING: 9606.ENSP00000314444

    UniGene: Hs.205427