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  4. HPS5 Antibody

HPS5 Antibody

  • 中文名稱：
    HPS5兔多克隆抗體
  • 貨號：
    CSB-PA010714GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    HPS5
  • 別名：
    HPS5 antibody; AIBP63 antibody; KIAA1017 antibody; Hermansky-Pudlak syndrome 5 protein antibody; Alpha-integrin-binding protein 63 antibody; Ruby-eye protein 2 homolog antibody; Ru2 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human HPS5
  • 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 0.02% 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 regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.
  • 基因功能參考文獻：
    1. This case underscores the importance of recognizing the mild clinical phenotype of HPS-5 and utilization of both laboratory and molecular testing for diagnosis, prognostication, and surveillance for end organ damage in patients affected with HPS. PMID: 29090612
    2. HPS5 mutation is associated with high hypopigmentation in Hermansky-Pudlak syndrome. PMID: 27593200
    3. We report a 92-year-old man with HPS 5 who, to our knowledge, is the oldest patient with HPS documented in the literature. PMID: 23607980
    4. Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. PMID: 21833017
    5. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. PMID: 15030569
    6. LAMP-3 distribution was restricted to the perinuclear region in HPS-5 fibroblasts, instead of extending to the periphery PMID: 15296495
    7. Tyrosinase and TYRP1 are mistrafficked, however, and fail to be efficiently delivered to melanosomes of HPS-5 melanocytes PMID: 17301833

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  • 相關疾病：
    Hermansky-Pudlak syndrome 5 (HPS5)
  • 亞細胞定位：
    Cytoplasm, cytosol.
  • 蛋白家族：
    HPS5 family
  • 組織特異性：
    Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.
  • 數據庫鏈接：

    HGNC: 17022

    OMIM: 607521

    KEGG: hsa:11234

    STRING: 9606.ENSP00000265967

    UniGene: Hs.437599



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