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CHN1 Antibody

  • 货号：
    CSB-PA005368GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P15882
  • 基因名：
    CHN1
  • 别名：
    A-chimaerin antibody; Alpha-chimerin antibody; ARHGAP2 antibody; CHIN_HUMAN antibody; CHN antibody; Chn1 antibody; N chimaerin antibody; N chimerin antibody; N-chimaerin antibody; N-chimerin antibody; NC antibody; Rho GTPase-activating protein 2 antibody; RHOGAP2 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human CHN1
  • 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,IHC
  • 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：
    GTPase-activating protein for p21-rac and a phorbol ester receptor. Involved in the assembly of neuronal locomotor circuits as a direct effector of EPHA4 in axon guidance.
  • 基因功能参考文献：
    1. CHN1 mutations were identified in 2 bilateral cases and in 1 parent of 1 affected case. One mutation is novel and occurred with additional vertical gaze abnormalities. PMID: 29031989
    2. CHN1 and TNFAIP3 are candidate biomarkers for esophageal squamous cell carcinomas PMID: 27072986
    3. These findings reveal a role for ephrin bidirectional signaling upstream of mutant alpha2-chimaerin in Duane retraction syndrome, which may contribute to the selective vulnerability of abducens motor neurons in this disorder PMID: 28346224
    4. this study shows that serum chemerin is an independent risk factor of prognosis of non-small cell lung cancer patients PMID: 28160556
    5. reduced alpha1-chimaerin expression in the brain of Alzheimer's disease cases, suggesting a role in the upregulation of Rac1 activity during the disease process. PMID: 25676811
    6. The patients most similar belong to families with a small or absent cranial nerve VI and septo-optic hypoplasia who carry CHN1 mutations PMID: 25331612
    7. Analysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome. PMID: 21715346
    8. Members of families segregating Duane retraction syndrome (DRS) as an autosomal dominant trait should be screened for mutations in the CHN1 gene, enhancing genetic counseling and permitting earlier diagnosis. PMID: 21555619
    9. We found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane's retraction syndrome PMID: 20535495
    10. study concludes that CHN1 mutations are not a major cause of Duane's retraction syndrome among individuals with sporadic disease PMID: 20034095
    11. These two pedigrees double the published pedigrees known to map to the DURS2 locus and can thus contribute toward the search for the DURS2 gene PMID: 17197532
    12. DRS (Duane retraction syndrome) linked to the DURS2 locus is associated with bilateral abnormalities of many orbital motor nerves, and structural abnormalities of all EOMs except those innervated by the inferior division of CN3. PMID: 17197533
    13. Identify chimaerins as candidates for the downmodulation of Rac1 in T-lymphocytes and, in addition, uncover a novel regulatory mechanism that mediates their activation in T-cells. PMID: 18249095
    14. studying families with a variant form of Duane's retraction syndrome (DURS2-DRS), causative heterozygous missense mutations in CHN1 were identified; these are gain-of-function mutations that increase alpha2-chimaerin RacGAP activity PMID: 18653847
    15. analysis of an autoinhibitory mechanism that restricts C1 domain-mediated activation of the Rac-GAP alpha2-chimaerin PMID: 18826946
    16. Considerable intrafamilial clinical variability was observed in this Duane syndrome pedigree that carried a alpha2-chimaerin mutation PMID: 19541263

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  • 相关疾病：
    Duane retraction syndrome 2 (DURS2)
  • 组织特异性：
    In neurons in brain regions that are involved in learning and memory processes.
  • 数据库链接：

    HGNC: 1943

    OMIM: 118423

    KEGG: hsa:1123

    STRING: 9606.ENSP00000386741

    UniGene: Hs.380138