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ROBO3 Antibody

  • 货号：
    CSB-PA020056GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q96MS0
  • 基因名：
    ROBO3
  • 别名：
    FLJ21044 antibody; HGPPS antibody; HGPS antibody; RB inhibiting gene 1 antibody; Rbig 1 antibody; Rbig1 antibody; Retinoblastoma inhibiting gene 1 antibody; Rig 1 antibody; Rig1 antibody; Robo 3 antibody; Robo3 antibody; Robo3 protein antibody; ROBO3_HUMAN antibody; Roundabout axon guidance receptor homolog 3 antibody; Roundabout homolog 3 antibody; Roundabout like protein 3 antibody; Roundabout, axon guidance receptor, homolog 3 (Drosophila) antibody; Roundabout-like protein 3 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Human ROBO3
  • 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,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：
    Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1. Required for hindbrain axon midline crossing.
  • 基因功能参考文献：
    1. In our case, we found a novel homozygous mutation p.R842* (c.2524C>T) causing a premature stop codon which is a disease-making mutation. PMID: 27267957
    2. confirmed that ROBO3 increases with clinical grade and miR-383 expression is inversely correlated to that of ROBO3 PMID: 26070964
    3. human AKAP79-anchored PKC selectively phosphorylates the Robo3.1 receptor subtype on serine 1330 PMID: 25882844
    4. We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations). PMID: 24969490
    5. Robo3.1A may prevent the Slit responsiveness by recruiting Robo1/2 into a late endosome- and lysosome-dependent degradation pathway. PMID: 24936616
    6. The novel ROBO3 mutation in this family may be among the most deleterious PMID: 21592015
    7. This patient had clinical and neuroimaging characteristics considered pathognomonic of horizontal gaze palsy and progressive scoliosis and yet did not have ROBO3 mutations PMID: 21510772
    8. Three novel ROBO3 mutations have been identified in consanguineous patients with horizontal gaze palsy and progressive scoliosis. PMID: 21850172
    9. Slit3 inhibits Robo3-induced invasion of synovial fibroblasts in rheumatoid arthritis. PMID: 20298552
    10. identified mutations in the ROBO3 gene in patients affected with horizontal gaze palsy with progressive scoliosis (HGPPS);ROBO3 is required for hindbrain axon midline crossing PMID: 15105459
    11. The major clinical characteristics of patients with mutated ROBO3 were horizontal gaze palsy, progressive scoliosis, and brainstem malformations. PMID: 15824346
    12. Here we describe and compare two human Robo3 isoforms, Robo3A and Robo3B, which differ by the insertion of 26 amino acids at the N-terminus, and these forms appear to be evolutionary conserved PMID: 16226035
    13. Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population. PMID: 16525029
    14. No evidence for association between Gilles de la Tourette Syndrome and either the ROBO3 gene. Thus, this gene is unlikely to be the susceptibility genes contributing to GTS on 11q24. PMID: 17671968
    15. Four SNPs of ROBO3 showed associations with autism PMID: 18270976
    16. This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis. PMID: 18829051
    17. This is the second reported patient with synergistic convergence and the first associated with a documented pathologic genotype. PMID: 19041479
    18. mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse. PMID: 15105459

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  • 相关疾病：
    Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1)
  • 亚细胞定位：
    Membrane; Single-pass type I membrane protein.
  • 蛋白家族：
    Immunoglobulin superfamily, ROBO family
  • 数据库链接：

    HGNC: 13433

    OMIM: 607313

    KEGG: hsa:64221

    STRING: 9606.ENSP00000380903

    UniGene: Hs.435621