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DOK7 Antibody

  • 货号：
    CSB-PA008930
  • 规格：
    ￥880
  • 其他：

产品详情

  • Uniprot No.：
    Q18PE1
  • 基因名：
    DOK7
  • 别名：
    Docking protein 7 antibody; DOK 7 antibody; DOK7 antibody; DOK7_HUMAN antibody; Downstream of tyrosine kinase 7 antibody; Protein Dok-7 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse
  • 免疫原：
    Synthesized peptide derived from the N-terminal region of Human Dok-7.
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated
  • 抗体亚型：
    IgG
  • 纯化方式：
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 产品提供形式：
    Liquid
  • 应用范围：
    WB, IHC, IF, ELISA
  • 推荐稀释比：
    Application Recommended Dilution
    WB 1:500-1:2000
    IHC 1:100-1:300
    IF 1:200-1:1000
    ELISA 1:20000
  • 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：
    Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
  • 基因功能参考文献：
    1. Repression of Dok7 expression via DNMT1 mediated DNA methylation promotes glioma cell proliferation. PMID: 29990858
    2. Silencing DNMT3A inhibits proliferation and invasion in ESCC cells by inducing demethylation of DOK7. PMID: 28343076
    3. DOK7 was reduced in lung cancer and reduced DOK7 expression was associated with poorer survival.DOK7 isoform 1 plays an inhibitory role on the proliferation and migration of lung cancer cells. PMID: 28393246
    4. Individuals with DOK7 congenital myasthenic syndrome displayed stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy pointing to a diagnosis and should lead to neurophysiological and genetic investigation PMID: 23831158
    5. this study demonistrated that Salbutamol is an effective treatment in patient wity congenital myasthenic syndrome due to DOK7 mutation. PMID: 23790237
    6. DOK7 limb-girdle myasthenic syndrome can mimick congenital muscular dystrophy. PMID: 22884442
    7. Hypermethylation of DOK7 occurs years before tumor diagnosis, suggesting a role as a powerful epigenetic blood-based biomarker as well as providing insights into breast cancer pathogenesis PMID: 23054610
    8. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later--ages two to three years--and in DOK7 CMS eye movements are usually spared and anticholinesterases can exacerbate the weakness PMID: 23278577
    9. The DOK7 gene is highly polymorphic, and within these many variants, a spectrum of mutations that can underlie DOK7 Congenital myasthenic syndromes that will inform in managing this disorder, were defined. PMID: 22661499
    10. Sequencing of DOK-7 in seronegative myasthenia gravis patients reveals no mutations. PMID: 21305573
    11. 6 CMS patients with DOK7 mutations had congenital stridor, bilateral vocal cord palsy and difficulty with feeding PMID: 20554332
    12. This study demonistreated that DOK7 mutation casused congenital myasthenic syndrome in French Canadians. PMID: 20610155
    13. these findings demonstrate that missense mutations in MUSK can result in a severe form of congenital myasthenic syndrome and indicate that the inability of MuSK mutants to interact with Dok-7. PMID: 20371544
    14. We report clinical, morphological and molecular data on 15 congenital myasthenic syndrome patients with mutations in DOK7; characterization of this distinct phenotype is essential to provide clues for targeted genetic screening and therapy PMID: 20012313
    15. The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented. PMID: 20603078
    16. Dok-7 is essential for neuromuscular synaptogenesis through its interaction with MuSK PMID: 16794080
    17. findings showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of congenital myasthenic syndromes with proximal muscle weakness PMID: 16917026
    18. study of patients with congenital myasthenic syndromes with mutations in DOK7; none with DOK7 mutations had tubular aggregates in muscle biopsy, implying 'limb-girdle myasthenia with tubular aggregates' may be distinct from CMS caused by DOK7 mutations PMID: 17439981
    19. considerable phenotypic variability associated with congenital myasthenic syndrome due to DOK7 mutations PMID: 18161030
    20. the COOH-terminal NES and Src homology 2 target motifs play key roles in Dok-7/MuSK signaling for neuromuscular synaptogenesis. PMID: 18165682
    21. Dok-7 is essential for not only the size but also the structural integrity of the EP. The structural alterations at the EPs cause the reduced safety margin of neuromuscular transmission. PMID: 18626973
    22. Dok-7 activates the muscle receptor kinase MuSK and shapes synapse formation. PMID: 19244212
    23. whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype PMID: 19261599

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  • 相关疾病：
    Myasthenic syndrome, congenital, 10 (CMS10)
  • 亚细胞定位：
    Cell membrane; Peripheral membrane protein. Cell junction, synapse.
  • 组织特异性：
    Preferentially expressed in skeletal muscle and heart. Present in thigh muscle, diaphragm and heart but not in the liver or spleen (at protein level).
  • 数据库链接：

    HGNC: 26594

    OMIM: 254300

    KEGG: hsa:285489

    STRING: 9606.ENSP00000344432

    UniGene: Hs.122110