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  4. Recombinant Human WD repeat domain phosphoinositide-interacting protein 4 (WDR45)

Recombinant Human WD repeat domain phosphoinositide-interacting protein 4 (WDR45)

  • 中文名称：
    人WDR45重组蛋白
  • 货号：
    CSB-EP852773HU
  • 规格：
    ￥1836
  • 图片：
    • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
  • 其他：

产品详情

  • 纯度：
    Greater than 90% as determined by SDS-PAGE.
  • 基因名：
    WDR45
  • Uniprot No.：
  • 别名：
    WDR45; WDRX1; WDRXI4; WIPI4; JM5; WD repeat domain phosphoinositide-interacting protein 4; WIPI-4; WD repeat-containing protein 45
  • 蛋白长度：
    Full Length
  • 来源：
    E.coli
  • 分子量：
    66.9kDa
  • 表达区域：
    1-360aa
  • 氨基酸序列
    MTQQPLRGVTSLRFNQDQSCFCCAMETGVRIYNVEPLMEKGHLDHEQVGSMGLVEMLHRSNLLALVGGGSSPKFSEISVLIWDDAREGKDSKEKLVLEFTFTKPVLSVRMRHDKIVIVLKNRIYVYSFPDNPRKLFEFDTRDNPKGLCDLCPSLEKQLLVFPGHKCGSLQLVDLASTKPGTSSAPFTINAHQSDIACVSLNQPGTVVASASQKGTLIRLFDTQSKEKLVELRRGTDPATLYCINFSHDSSFLCASSDKGTVHIFALKDTRLNRRSALARVGKVGPMIGQYVDSQWSLASFTVPAESACICAFGRNTSKNVNSVIAICVDGTFHKYVFTPDGNCNREAFDVYLDICDDDDF
    Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
  • 蛋白标签：
    N-terminal GST-tagged
  • 产品提供形式：
    Liquid or 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.
  • 缓冲液：
    Tris-based buffer,50% glycerol
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    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.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet & COA：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation. Binds phosphatidylinositol 3-phosphate (PtdIns3P). Activated by the STK11/AMPK signaling pathway upon starvation, WDR45 is involved in autophagosome assembly downstream of WIPI2, regulating the size of forming autophagosomes. Together with WIPI1, promotes ATG2 (ATG2A or ATG2B)-mediated lipid transfer by enhancing ATG2-association with phosphatidylinositol 3-monophosphate (PI3P)-containing membranes. Probably recruited to membranes through its PtdIns3P activity.
  • 基因功能参考文献：
    1. WIPI3 and WIPI4 beta-propellers have roles as scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy PMID: 28561066
    2. This study showed that Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45. PMID: 29171013
    3. This study showed that WDR45 genes account for disease of patients diagnosed with an Neurodegeneration with brain iron accumulation disorder. PMID: 29325618
    4. This study showed the WDR45 mutation complicated by infantile spasms. PMID: 28551038
    5. A rare male patient is reported with mutation in WDR45 and early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase. PMID: 28711740
    6. Inherited WDR45 variants are possible, albeit rare. Hemizygous germline variants in males can be viable, but likely result in a more severe NBIA phenotype. PMID: 26577041
    7. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. PMID: 27030146
    8. WDR45 mutation is associated with beta-propeller protein-associated neurodegeneration. PMID: 26481852
    9. It is an autophagy gene and its mutation causes SENDA/BPAN(beta-propeller protein associated neurodegeneration). (review) PMID: 27349079
    10. Genetic analysis for WDR45 revealed that she had a splice site mutation PMID: 27349085
    11. C19orf12 mutations were confirmed in our heterogeneous NBIA cohort, while WDR45 mutations appear to be restricted to the subtype showing encephalopathy in childhood with neurodegeneration in adulthood. PMID: 25592411
    12. An observed mutation of WDR45 (c.C868T:p.Q290X) seems to cause beta-propeller protein-associated neurodegeneration. PMID: 25263061
    13. Mutations in WDR45 were associated with neurodegeneration with brain iron accumulation and neuropsychiatric syndromes. PMID: 24368176
    14. Mutations in WDR45 are associated with brain iron accumulation and X-linked disorders of neurodegeneration. PMID: 23687123
    15. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. PMID: 23435086
    16. we have identified mutations in WDR45 as a cause of a distinctive X-linked dominant form of neurodegeneration with brain iron accumulation (NBIA) PMID: 23176820

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  • 相关疾病：
    Neurodegeneration with brain iron accumulation 5 (NBIA5)
  • 亚细胞定位：
    Preautophagosomal structure. Cytoplasm.
  • 蛋白家族：
    WD repeat SVP1 family
  • 组织特异性：
    Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.
  • 数据库链接：

    HGNC: 28912

    OMIM: 300526

    KEGG: hsa:11152

    STRING: 9606.ENSP00000348848

    UniGene: Hs.632807