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ERCC6L2 Antibody, Biotin conjugated

  • 中文名稱(chēng)：
    ERCC6L2兔多克隆抗體, Biotin偶聯(lián)
  • 貨號(hào)：
    CSB-PA004261LD01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱(chēng)：
    Rabbit anti-Homo sapiens (Human) ERCC6L2 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    ERCC6L2
  • 別名：
    C9orf102 antibody; Chromosome 9 open reading frame 102 antibody; excision repair cross-complementing rodent repair deficiency; complementation group 6-like 2 antibody; FLJ37706 antibody; MGC30192 antibody; MGC43364 antibody; Putative DNA repair and recombination protein RAD26-like antibody; putative repair and recombination helicase RAD26L antibody; RAD26_HUMAN antibody; Rad26l antibody; RAD26L hypothetical protein antibody; SR278 antibody; stretch responsive protein 278 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human DNA excision repair protein ERCC-6-like 2 protein (72-371AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標(biāo)記方式：
    Biotin
  • 克隆類(lèi)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
  • 應(yīng)用范圍：
    ELISA
  • Protocols：
  • 儲(chǔ)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(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    May be involved in early DNA damage response.
  • 基因功能參考文獻(xiàn)：
    1. ERCC6L2-associated disorder has recently been described. We identified an additional case through whole-exome sequencing. At the age of 9 years, the patient underwent whole exome sequencing and was discovered to have a homozygous stop mutation in ERCC6L2 (NCBI RefSeq NG_034107.1), c.1687C>T (p.Arg563*). PMID: 29633571
    2. The inherited bone marrow failure syndrome caused by biallelic variants in ERCC6L2 can be considered as a primary transcription deficiency rather than a DNA repair defect PMID: 29987015
    3. Hebo is ubiquitously expressed, localized in the nucleus, and rapidly recruited to DNAdsb's in an NBS1-dependent manner. PMID: 27185855
    4. These observations identify a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function. PMID: 24507776
  • 相關(guān)疾?。?/div>
    Bone marrow failure syndrome 2 (BMFS2)
  • 亞細(xì)胞定位：
    Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Mitochondrion. Note=Colocalizes with NEK6 in the centrosome. In response to DNA damage, translocates from the cytosol to mitochondria and nucleus in a reactive oxygen species (ROS)-dependent manner.
  • 蛋白家族：
    SNF2/RAD54 helicase family
  • 組織特異性：
    Expressed in bone marrow (at protein level).
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 26922

    OMIM: 615667

    KEGG: hsa:375748

    STRING: 9606.ENSP00000288985

    UniGene: Hs.432364