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SETD5 Antibody, Biotin conjugated

  • 中文名稱:
    SETD5兔多克隆抗體, Biotin偶聯
  • 貨號:
    CSB-PA871633LD01HU
  • 規格:
    ¥880
  • 其他:

產品詳情

  • 產品名稱:
    Rabbit anti-Homo sapiens (Human) SETD5 Polyclonal antibody
  • Uniprot No.:
  • 基因名:
    SETD5
  • 別名:
    SET domain containing 5 antibody; SET domain-containing protein 5 antibody; Setd5 antibody; SETD5_HUMAN antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Recombinant Human SET domain-containing protein 5 protein (519-700AA)
  • 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:
    Chromatin regulator required for brain development: acts as a regulator of RNA elongation rate, thereby regulating neural stem cell (NSC) proliferation and synaptic transmission. May act by mediating trimethylation of 'Lys-36' of histone H3 (H3K36me3), which is essential to allow on-time RNA elongation dynamics. Also monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro. The relevance of histone methyltransferase activity is however subject to discussion.
  • 基因功能參考文獻:
    1. Review mapped the clinical phenotypes of 42 individuals carrying mutations on the SETD5 gene, with 23.8% presenting autistic-like features. Most of mutations occurred between positions 9,480,000-9,500,000 bp on chromosome 3 (3p25.3) at the SETD5 gene locus. In all males, mutations in SETD5 presented high penetrance, while in females the clinical phenotype seems more variable. PMID: 29484850
    2. We present the first familial case of a SETD5 mutation contributing to a phenotype of congenital heart defects and dysmorphic features, with variable expression, in two siblings and their father. Interestingly, the father demonstrated only mild intellectual impairment. PMID: 27375234
    3. SETD5 frameshift mutation identified in a patient with mild intellectual disability. PMID: 28549204
    4. SETD5 sequence variants contribute substantially to the microdeletion 3p25.3 phenotype. SETD5 variants as a relatively frequent cause of intellectual disability. PMID: 25138099
    5. miR126-5p is a functional, endothelial-enriched microRNA that participates in the control of leucocyte trafficking by regulating the expression of ALCAM and SetD5. PMID: 24562769
    6. analysis provides sufficient evidence that rare de novo LoF mutations in SETD5 are a relatively frequent (0.7%) cause of intellectual disability PMID: 24680889

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  • 相關疾病:
    Mental retardation, autosomal dominant 23 (MRD23)
  • 亞細胞定位:
    Nucleus. Chromosome.
  • 數據庫鏈接:

    HGNC: 25566

    OMIM: 615743

    KEGG: hsa:55209

    STRING: 9606.ENSP00000383939

    UniGene: Hs.288164



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