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  4. VPS33B Antibody

VPS33B Antibody

  • 中文名稱：
    VPS33B兔多克隆抗體
  • 貨號：
    CSB-PA025903GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    VPS33B
  • 別名：
    VPS33BVacuolar protein sorting-associated protein 33B antibody; hVPS33B antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human VPS33B
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity Purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產品提供形式：
    Liquid
  • 應用范圍：
    ELISA,WB,IHC,IF
  • 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：
    May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity. Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes.
  • 基因功能參考文獻：
    1. ARKID syndrome is caused by VPS33B mutation. PMID: 28017832
    2. Vesicular trafficking complexes, containing VPS33B, are a novel class of modifiers of integrin function. PMID: 26399659
    3. Novel splice site mutations in the VPS33B gene were identified in arthrogryposis, renal dysfunction, and cholestasis syndrome in Koreans. PMID: 24917129
    4. Abnormal protein trafficking and impairment in multivesicular bodies maturation in Megakaryocytes underlie the alpha-granule deficiency in Vps33b(fl/fl)-ER(T2) mouse and ARC patients. PMID: 25947942
    5. Case Report: neonate with ARC syndrome and high GGT cholestasis caused by VPS33B heterozygous mutations. PMID: 24782640
    6. Case Report: novel mutations in VPS33B in Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome. PMID: 24415890
    7. Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion. PMID: 23918659
    8. Evidence of genotype-phenotype correlation in ARC syndrome the VPS33B c.1225+5G>C mutation predicts a mild phenotype. PMID: 22753090
    9. VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet alpha-granule biogenesis. PMID: 23002115
    10. SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells PMID: 22677173
    11. encodes a homolog of the class C yeast vacuolar protein sorting gene, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion PMID: 15052268
    12. A and B classes reflect the evolution of organelle/tissue-specific functions PMID: 15790593
    13. VPS33B is involved in intracellular vesicle trafficking PMID: 16123220
    14. The present observations indicate that VPS33B deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in ARC syndrome. PMID: 18347289
    15. Genetic deletion of ptpA attenuates Mycobacterium tuberculosis growth in human macrophages and identify VPS33B, a regulator of membrane fusion, as a PtpA substrate. PMID: 18474358
    16. We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome. PMID: 19274792

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  • 相關疾病：
    Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1)
  • 亞細胞定位：
    Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side. Early endosome. Cytoplasmic vesicle, clathrin-coated vesicle. Recycling endosome.
  • 蛋白家族：
    STXBP/unc-18/SEC1 family
  • 組織特異性：
    Ubiquitous; highly expressed in testis and low expression in the lung.
  • 數據庫鏈接：

    HGNC: 12712

    OMIM: 208085

    KEGG: hsa:26276

    STRING: 9606.ENSP00000327650

    UniGene: Hs.745007



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