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KLHL7 Antibody

  • 中文名稱:
    KLHL7兔多克隆抗體
  • 貨號:
    CSB-PA812891ESR1HU
  • 規格:
    ¥440
  • 圖片:
    • Immunohistochemistry of paraffin-embedded human colon cancer using CSB-PA812891ESR1HU at dilution of 1:100
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) KLHL7 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    KLHL7
  • 別名:
    KLHL7Kelch-like protein 7 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human Kelch-like protein 7 protein (427-586AA)
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 克隆類型:
    Polyclonal
  • 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, pH7.3.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    ELISA, IHC
  • 推薦稀釋比:
    Application Recommended Dilution
    IHC 1:20-1:200
  • 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:
    Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.
  • 基因功能參考文獻:
    1. We have expanded the clinical spectrum of KLHL7 autosomal recessive variants by describing a syndrome with features overlapping CS/CISS1 and BOS. PMID: 29074562
    2. KLHL7 is a novel regulator of the nucleolus associated with TUT1 ubiquitination, and pathogenic KLHL7 mutants may provide valuable information to elucidate a mechanism of retinitis pigmentosa etiology. PMID: 29032201
    3. data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype--but they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7 PMID: 27392078
    4. The phenotypes are similar among patients with 3 types of KLHL7 mutations (c.458C>T, c.449G>A, and c.457G>A). PMID: 22084217
    5. KLHL7 forms a dimer, assembles with Cul3 through its BTB and BACK domains, and exerts E3 activity. PMID: 21828050
    6. Observed in 2 Scandinavian families to date, KLHL7 mutation has recently been associated with autosomal dominant retinitis pigmentosa. PMID: 20547956
    7. The present results indicate that KLHL7 antibodies are associated with various cancers, and in some patients also with neurological disease. Whether KLHL7 antibodies can be used as paraneoplastic markers for PNS remains to be determined. PMID: 16918702
    8. Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. PMID: 19520207

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  • 相關疾病:
    Cold-induced sweating syndrome 3 (CISS3); Retinitis pigmentosa 42 (RP42)
  • 亞細胞定位:
    Nucleus. Cytoplasm.
  • 組織特異性:
    Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.
  • 數據庫鏈接:

    HGNC: 15646

    OMIM: 611119

    KEGG: hsa:55975

    STRING: 9606.ENSP00000343273

    UniGene: Hs.654817



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