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SYNGAP1 Antibody

  • 货号：
    CSB-PA023010GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q96PV0
  • 基因名：
  • 别名：
    DKFZp761G1421 antibody; KIAA1938 antibody; MRD5 antibody; Neuronal RasGAP antibody; OTTHUMP00000064825 antibody; p135 SynGAP antibody; Ras GTPase activating protein SynGAP antibody; Ras GTPase-activating protein SynGAP antibody; RASA 1 antibody; RASA 5 antibody; RASA1 antibody; RASA5 antibody; SYGP1_HUMAN antibody; Synaptic Ras GAP 1 antibody; Synaptic Ras GTPase activating protein 1 antibody; Synaptic Ras GTPase activating protein 1 homolog antibody; Synaptic Ras GTPase activating protein 135kDa antibody; Synaptic Ras GTPase activating protein antibody; Synaptic Ras GTPase-activating protein 1 antibody; Synaptic Ras-GAP 1 antibody; SYNGAP 1 antibody; SYNGAP1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human SYNGAP1
  • 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,IF
  • 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：
    Major constituent of the PSD essential for postsynaptic signaling. Inhibitory regulator of the Ras-cAMP pathway. Member of the NMDAR signaling complex in excitatory synapses, it may play a role in NMDAR-dependent control of AMPAR potentiation, AMPAR membrane trafficking and synaptic plasticity. Regulates AMPAR-mediated miniature excitatory postsynaptic currents. Exhibits dual GTPase-activating specificity for Ras and Rap. May be involved in certain forms of brain injury, leading to long-term learning and memory deficits.
  • 基因功能参考文献：
    1. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. PMID: 26079862
    2. This is the first description of a special electroencephalogram phenomenon (normalization with eye opening) in association with SYNGAP1 mutations. PMID: 26110312
    3. Syngap transgenic mice exhibited alterations in long-term depression and dendritic spine morphology. PMID: 26558778
    4. Phosphorylation of synaptic GTPase-activating protein (synGAP) by Ca2+/calmodulin-dependent protein kinase II (CaMKII) and cyclin-dependent kinase 5 (CDK5) alters the ratio of its GAP activity toward Ras and Rap GTPases. PMID: 25533468
    5. Reduced cognition in mutant Syngap1 transgenic mice is caused by isolated damage to developing forebrain neurons. PMID: 24945774
    6. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
    7. De novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function, causing intellectual disability, autism, and a specific form of epilepsy. PMID: 23161826
    8. SYNGAP1 is a brain-specific protein that interacts with key components of the proteins involved in experience-dependent changes in glutamate synapses involved in learning. PMID: 21480541
    9. We provide evidence that truncating mutations in SYNGAP1 are common in nonsyndromic intellectual disability and can be also associated with autism. PMID: 21237447
    10. The C2 domain of SynGAP is essential for stimulation of the Rap GTPase reaction. PMID: 18323856
    11. Results indicate that SYNGAP1 disruption is a cause of autosomal dominant nonsyndromic mental retardation. PMID: 19196676

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  • 相关疾病：
    Mental retardation, autosomal dominant 5 (MRD5)
  • 数据库链接：

    HGNC: 11497

    OMIM: 603384

    KEGG: hsa:8831

    STRING: 9606.ENSP00000403636

    UniGene: Hs.586264