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WDR45 Antibody

  • 货号：
    CSB-PA026031GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y484
  • 基因名：
    WDR45
  • 别名：
    WDR45 antibody; WDRX1 antibody; WDRXI4 antibody; WIPI4 antibody; JM5 antibody; WD repeat domain phosphoinositide-interacting protein 4 antibody; WIPI-4 antibody; WD repeat-containing protein 45 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human WDR45
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

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