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HPS6 Antibody, FITC conjugated

  • 中文名稱：
    HPS6兔多克隆抗體, FITC偶聯(lián)
  • 貨號：
    CSB-PA803158LC01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) HPS6 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    HPS6
  • 別名：
    BLOC2S3 antibody; FLJ22501 antibody; Hermansky Pudlak syndrome 6 protein antibody; Hermansky-Pudlak syndrome 6 protein antibody; HPS6 antibody; HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 antibody; HPS6_HUMAN antibody; MGC20522 antibody; Ru antibody; Ruby eye protein homolog antibody; Ruby-eye protein homolog antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Hermansky-Pudlak syndrome 6 protein (221-319AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    FITC
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 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.

產(chǎn)品評價

靶點(diǎn)詳情

  • 功能：
    May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Acts as cargo adapter for the dynein-dynactin motor complex to mediate the transport of lysosomes from the cell periphery to the perinuclear region. Facilitates retrograde lysosomal trafficking by linking the motor complex to lysosomes, and perinuclear positioning of lysosomes is crucial for the delivery of endocytic cargos to lysosomes, for lysosome maturation and functioning.
  • 基因功能參考文獻(xiàn)：
    1. Identification of a novel mutation in HPS6 in an individual with hemophilia B shows that, although quite rare, patients may be diagnosed with two independent inherited bleeding disorders. No evidence of lung disease was found in this adult patient with Hermansky-Pudlak syndrome subtype 6 PMID: 27641950
    2. the novel loss-of-function variant in the HPS6 subunit of biogenesis of lysosome-related organelles complex 2 is pathologic and leads to a reduced platelet dense granules and their release. The findings are compatible with an impaired platelet function and hence an enhanced bleeding risk. PMID: 27917594
    3. Biallelic, truncating mutations in HPS6 were identified by candidate Sanger sequencing and included a novel variant. PMID: 26823395
    4. we report novel HPS6 mutations as the first report of HPS6 mutations in the Japanese population. The clinical features in the two sisters suggest OA. Although the patients in this study showed no bleeding problem, we could establish a diagnosis of HPS-6 by WES. PMID: 27225848
    5. HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes PMID: 25189619
    6. Mutation of the protein-trafficking gene Hps6 increased sensitivity of melanoma cells to cis-diaminedichloroplatinum II treatment. PMID: 22203954
    7. Molecular studies showed a variety of mutations in the single exon HPS6 gene, including frame shift, missense, and nonsense mutations as well as a approximately 20 kb deletion spanning the entire HPS6 genomic region. PMID: 19843503
    8. Component of BLOC-2. Results suggest a common biological basis underlying the pathogenesis of HPS-3, -5 and -6 disease. PMID: 15030569

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  • 相關(guān)疾?。?/div>
    Hermansky-Pudlak syndrome 6 (HPS6)
  • 亞細(xì)胞定位：
    Microsome membrane. Cytoplasm, cytosol. Early endosome membrane. Lysosome membrane.
  • 組織特異性：
    Ubiquitous.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 18817

    OMIM: 607522

    KEGG: hsa:79803

    STRING: 9606.ENSP00000299238

    UniGene: Hs.125133