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  4. SNX14 Antibody, FITC conjugated

SNX14 Antibody, FITC conjugated

  • 中文名稱：
    SNX14兔多克隆抗體, FITC偶聯
  • 貨號：
    CSB-PA806844LC01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) SNX14 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    SNX14
  • 別名：
    MGC13217 antibody; RGS-PX2 antibody; RP11-321N4.2 antibody; Snx14 antibody; SNX14_HUMAN antibody; Sorting nexin 14 antibody; Sorting nexin-14 antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Sorting nexin-14 protein (601-893AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

  • 功能：
    Plays a role in maintaining normal neuronal excitability and synaptic transmission. May be involved in several stages of intracellular trafficking. Required for autophagosome clearance, possibly by mediating the fusion of lysosomes with autophagosomes. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2), a key component of late endosomes/lysosomes. Does not bind phosphatidylinositol 3-phosphate (PtdIns(3P)).
  • 基因功能參考文獻：
    1. Here we report on a child with a novel missense mutation in the SNX14 gene that appears to be debilitating for protein conformation, function and review the previously reported cases from 15 families PMID: 27913285
    2. A unique ataxia syndrome due to biallelic SNX14 mutations leading to lysosome-autophagosome dysfunction. PMID: 25848753
    3. SNX19 and SNX14 PX domains reveal key differences in spatial control of RGS-PX proteins in cell signaling and trafficking. PMID: 25148684
    4. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. PMID: 25439728
  • 相關疾病：
    Spinocerebellar ataxia, autosomal recessive, 20 (SCAR20)
  • 亞細胞定位：
    Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Cell projection, dendrite.
  • 蛋白家族：
    Sorting nexin family
  • 組織特異性：
    Widely expressed both in fetal and adult tissues.
  • 數據庫鏈接：

    HGNC: 14977

    OMIM: 616105

    KEGG: hsa:57231

    STRING: 9606.ENSP00000313121

    UniGene: Hs.485871



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