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ARHGEF9 Antibody

  • 货号：
    CSB-PA002057GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O43307
  • 基因名：
    ARHGEF9
  • 别名：
    9630036L12Rik antibody; A230067K14 antibody; ARHG9_HUMAN antibody; Arhgef9 antibody; Cdc42 guanine nucleotide exchange factor (GEF) 9 antibody; Collybistin antibody; collybistin I antibody; EIEE8 antibody; HPEM 2 antibody; hPEM-2 collybistin antibody; KIAA0424 antibody; mKIAA0424 antibody; OTTHUMP00000023424 antibody; OTTHUMP00000023425 antibody; OTTHUMP00000023427 antibody; PEM 2 antibody; PEM 2 homolog antibody; PEM-2 homolog antibody; PEM2 antibody; Rac/Cdc42 guanine nucleotide exchange factor 9 antibody; Rho guanine nucleotide exchange factor 9 antibody; RP11 357C3.4 antibody; RP23 230K20.3 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human ARHGEF9-Specific
  • 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 0.1% 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：
    Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters.
  • 基因功能参考文献：
    1. Autism spectrum disorder patient with the smallest inactivating deletion in the collybistin gene. PMID: 27238888
    2. Collybistin forms a complex with mTOR and eIF3 and by sequestering these proteins downregulates mTORC1 signaling and protein synthesis potentially contributing to intellectual disability and autism. PMID: 25898924
    3. Impairment of the membrane lipid binding activity of Collybistin R290H and a consequent defect in inhibitory synapse maturation represent a likely molecular pathomechanism of epilepsy and mental retardation in humans. PMID: 25678704
    4. Data indicate that ARHGEF9 is likely to be responsible for syndromic X-linked mental retardation associated with epilepsy. PMID: 21633362
    5. These results reveal that G(s) and G(q) signalings regulate hPEM-2 functions through PKA and c-Src in Neuro-2a neuroblastoma cells, respectively. PMID: 22033413
    6. major regulator of GABAergic postsynaptic gephyrin clustering PMID: 21807943
    7. Here we identified residues critical for interaction with gephyrin in the linker region between the SH3 and the DH domains of collybistin. PMID: 11727829
    8. translocates gephyrin to submembrane microaggregates; collybistin mutation (G55A)is found in exon 2 of the ARHGEF9 gene in a patient with clinical symptoms of both hyperekplexia and epilepsy PMID: 15215304
    9. Results show that hPEM-2 is a target protein of Smurf1. PMID: 18208356

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  • 相关疾病：
    Epileptic encephalopathy, early infantile, 8 (EIEE8)
  • 亚细胞定位：
    Cytoplasm. Cell junction, synapse, postsynaptic density.
  • 组织特异性：
    Detected in brain. Detected at low levels in heart.
  • 数据库链接：

    HGNC: 14561

    OMIM: 300429

    KEGG: hsa:23229

    STRING: 9606.ENSP00000253401

    UniGene: Hs.54697