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  4. ZSWIM6 Antibody, Biotin conjugated

ZSWIM6 Antibody, Biotin conjugated

  • 中文名稱：
    ZSWIM6兔多克隆抗體, Biotin偶聯(lián)
  • 貨號：
    CSB-PA884622LD01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) ZSWIM6 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    ZSWIM6
  • 別名：
    KIAA1577 antibody; Zinc finger SWIM domain-containing protein 6 antibody; Zswim6 antibody; ZSWM6_HUMAN antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Zinc finger SWIM domain-containing protein 6 protein (430-583AA)
  • 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(chǎn)品提供形式：
    Liquid
  • 應(yīng)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(chǎn)品評價

靶點詳情

  • 功能：
    involved in nervous system development, important for striatal morphology and motor regulation.
  • 基因功能參考文獻：
    1. This study builds support for a key role for ZSWIM6 in neuronal development and function, in addition to its putative roles in limb and craniofacial development, and provides a striking example of different variants in the same gene leading to distinct phenotypes. PMID: 29198722
    2. A single recurrent heterozygous missense substitution in ZSWIM6, encoding a protein of unknown function, was previously shown to underlie this disorder in four unrelated cases. Here we describe four additional individuals from three families, comprising two sporadic subjects (one of whom had no limb malformation) and a mildly affected female with a severely affected son PMID: 26706854
    3. Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p. Arg1163Trp])associated with acromelic frontonasal dysostosis in a highly conserved protein domain of ZSWIM6; this variant has not been seen in the 1000 Genomes data, dbSNP, or the Exome Sequencing Project PMID: 25105228
  • 相關(guān)疾病：
    Acromelic frontonasal dysostosis (AFND)
  • 數(shù)據(jù)庫鏈接：

    HGNC: 29316

    OMIM: 603671

    KEGG: hsa:57688

    STRING: 9606.ENSP00000252744

    UniGene: Hs.744939



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