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SMS Antibody

  • 货号：
    CSB-PA021854GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P52788
  • 基因名：
    SMS
  • 别名：
    MRSR antibody; SMS antibody; Snyder Robinson X linked mental retardation syndrome antibody; Spermidine aminopropyltransferase antibody; Spermine synthase antibody; SPMSY antibody; SpS antibody; SPSY_HUMAN antibody; SRS antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SMS
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Catalyzes the production of spermine from spermidine and decarboxylated S-adenosylmethionine (dcSAM).
  • 基因功能参考文献：
    1. Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. PMID: 26761001
    2. Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome. PMID: 23696453
    3. Studied human spermine synthase activity by engineered mutations. PMID: 23468611
    4. This observation is used to demonstrate, computationally and experimentally, that a particular condition, Snyder-Robinson syndrome caused by the G56S spermine synthase mutation, might be ameliorated by small molecule binding. PMID: 23408511
    5. spermine synthase activity and the resulting elevation of the spermine:spermidine ratio does not alter susceptibility to tumor development initiated by c-Ha-Ras mutation or Apc loss PMID: 22258329
    6. the mutability of spermine synthase PMID: 21647366
    7. Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. PMID: 21318891
    8. each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1). PMID: 21152090
    9. the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers. PMID: 20059804
    10. Study reports the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome. PMID: 18550699
    11. A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome. PMID: 19206178
    12. Data suggest that disruption of spermine synthase function may negatively affect regional brain volumes that subserve cognitive and motor abilities. PMID: 19277733

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  • 相关疾病：
    X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR)
  • 蛋白家族：
    Spermidine/spermine synthase family
  • 数据库链接：

    HGNC: 11123

    OMIM: 300105

    KEGG: hsa:6611

    STRING: 9606.ENSP00000385746

    UniGene: Hs.724874