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  4. LMBRD1 Antibody, Biotin conjugated

LMBRD1 Antibody, Biotin conjugated

  • 中文名稱：
    LMBRD1兔多克隆抗體, Biotin偶聯
  • 貨號：
    CSB-PA885730LD01HU
  • 規格：
    ￥880
  • 其他：

產品詳情

  • 產品名稱：
    Rabbit anti-Homo sapiens (Human) LMBRD1 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    LMBRD1
  • 別名：
    HDAg-L-interacting protein NESI antibody; LMBD1_HUMAN antibody; LMBR1 domain-containing protein 1 antibody; lmbrd1 antibody; Nuclear export signal-interacting protein antibody; Probable lysosomal cobalamin transporter antibody
  • 宿主：
    Rabbit
  • 反應種屬：
    Human
  • 免疫原：
    Recombinant Human Probable lysosomal cobalamin transporter protein (6-100AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    Biotin
  • 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
  • 應用范圍：
    ELISA
  • 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：
    Lysosomal membrane chaperone required to export cobalamin (vitamin B12) from the lysosome to the cytosol, allowing its conversion to cofactors. Targets ABCD4 transporter from the endoplasmic reticulum to the lysosome. Then forms a complex with lysosomal ABCD4 and cytoplasmic MMACHC to transport cobalamin across the lysosomal membrane. Acts as an adapter protein which plays an important role in mediating and regulating the internalization of the insulin receptor (INSR). Involved in clathrin-mediated endocytosis of INSR via its interaction with adapter protein complex 2. Essential for the initiation of gastrulation and early formation of mesoderm structures during embryogenesis.; (Microbial infection) May play a role in the assembly of hepatitis delta virus (HDV).
  • 基因功能參考文獻：
    1. endogenous ABCD4 was localized to both lysosomes and the ER, and its lysosomal localization was disturbed by knockout of LMBRD1 PMID: 27456980
    2. Data suggest that ABCD4 lysosomal targeting depends on co-expression of and interaction with LMBRD1; mutations in LMBRD1 and ABCD4 that result in cobalamin metabolism disorders cblF and cblJ (or mutations in ATPase domain) disrupt interactions between LMBRD1 and ABCD4. (LMBRD1 = nuclear export signal-interacting protein; ABCD4 = ATP-binding cassette, sub-family D (ALD), member 4) PMID: 28572511
    3. Results propose a model whereby membrane-bound LMBD1 and ABCD4 facilitate the vectorial delivery of lysosomal vitamin B12 to cytoplasmic MMACHC. PMID: 25535791
    4. LMBD1 plays an imperative role in mediating and regulating the endocytosis of the IR. PMID: 24078630
    5. These data indicate that by forming complexes with lamin A/C and nucleoporins, NESI facilitates the CRM1-independent nuclear export of large hepatitis delta antigen. PMID: 23175358
    6. novel mutations in LMBRD1 in three patients PMID: 21303734
    7. LMBRD1: the gene for the cblF defect of vitamin B metabolism. PMID: 20446115
    8. a LMBRD1 mutation causes the cblF defect of vitamin B(12) metabolism in a Turkish patient [case report] PMID: 20127417
    9. LMBRD1 is the gene underlying the cblF defect of cobalamin metabolism and suggests that LMBD1 is a lysosomal membrane exporter for cobalamin. PMID: 19136951

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  • 相關疾病：
    Methylmalonic aciduria and homocystinuria type cblF (MMAHCF)
  • 亞細胞定位：
    Endoplasmic reticulum membrane. Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, clathrin-coated vesicle.
  • 蛋白家族：
    LIMR family, LMBRD1 subfamily
  • 組織特異性：
    Isoform 3 is expressed in liver.
  • 數據庫鏈接：

    HGNC: 23038

    OMIM: 277380

    KEGG: hsa:55788

    STRING: 9606.ENSP00000359609

    UniGene: Hs.271643



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