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  4. WBSCR16 Antibody

WBSCR16 Antibody

  • 中文名稱：
    WBSCR16兔多克隆抗體
  • 貨號：
    CSB-PA025981GA01HU
  • 規格：
    ￥3,900
  • 其他：

產品詳情

  • Uniprot No.：
  • 基因名：
    RCC1L
  • 別名：
    5730496C04Rik antibody; AU019812 antibody; DKFZp434D0421 antibody; MGC189739 antibody; MGC44931 antibody; RCC1-like G exchanging factor-like protein antibody; WBS16_HUMAN antibody; Wbscr16 antibody; Williams-Beuren syndrome chromosomal region 16 protein antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human WBSCR16
  • 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
  • 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：
    Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1-dependent mitochondrial fusion. Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system.
  • 基因功能參考文獻：
    1. Using X-ray crystallography, established the structure of human Williams-Beuren Syndrome Chromosomal Region 16 (WBSCR16), and showed that WBSCR16 has seven-bladed b-propeller fold (the RCC1 fold) with unique surface features. PMID: 28608466
  • 相關疾病：
    WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.
  • 亞細胞定位：
    Mitochondrion membrane. Mitochondrion inner membrane.
  • 組織特異性：
    Ubiquitous.
  • 數據庫鏈接：

    HGNC: 14948

    OMIM: 194050

    KEGG: hsa:81554

    STRING: 9606.ENSP00000333799

    UniGene: Hs.529623



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