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ANKRD11 Antibody

  • 货号：
    CSB-PA757769LA01HU
  • 规格：
    ￥440
  • 促销：
    小规格抗体限时一口价
  • 其他：

产品详情

  • 产品名称：
    Rabbit anti-Homo sapiens (Human) ANKRD11 Polyclonal antibody
  • Uniprot No.：
    Q6UB99
  • 基因名：
    ANKRD11
  • 别名：
    ANKRD11 antibody; ANCO1Ankyrin repeat domain-containing protein 11 antibody; Ankyrin repeat-containing cofactor 1 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human
  • 免疫原：
    Recombinant Human Ankyrin repeat domain-containing protein 11 protein (1002-1276AA)
  • 免疫原种属：
    Homo sapiens (Human)
  • 标记方式：
    Non-conjugated

    本页面中的产品，ANKRD11 Antibody (CSB-PA757769LA01HU)，的标记方式是Non-conjugated。对于ANKRD11 Antibody，我们还提供其他标记。见下表：

    可提供标记
    标记方式 货号 产品名称 应用
    HRP CSB-PA757769LB01HU ANKRD11 Antibody, HRP conjugated ELISA
    FITC CSB-PA757769LC01HU ANKRD11 Antibody, FITC conjugated
    Biotin CSB-PA757769LD01HU ANKRD11 Antibody, Biotin conjugated ELISA
  • 克隆类型：
    Polyclonal
  • 抗体亚型：
    IgG
  • 纯化方式：
    >95%, Protein G purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA
  • 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：
    Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells. May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation. Has a role in proliferation and development of cortical neural precursors. May also regulate bone homeostasis.
  • 基因功能参考文献：
    1. ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome. PMID: 28250421
    2. exome sequencing identified a novel de novo heterozygous single base pair duplication (c.6015dupA) in ANKRD11, which is predicted to lead to a premature stop codon and loss of function in ANKRD11, thereby implicating it as contributing to the molecular diagnosis of KBG syndrome. PMID: 27900361
    3. Here we report a large series of 39 patients with KBG syndrome; these patients harbored ANKRD11 mutations (20 cases) or deletions (19 cases). All the mutations were found by targeted molecular analysis on patients with clinical features suggestive of KBG. PMID: 27605097
    4. Twelve novel cases of haploinsufficiency for ANKRD11-flanking genes make the difference between KBG and 16q24.3 microdeletion syndromes. PMID: 28422132
    5. These findings point out the importance of screening ANKRD11 in young CdLS patients who were found to be negative for mutations in the five known CdLS genes. PMID: 25652421
    6. Further delineation of the KBG syndrome phenotype on large patients cohort caused by ANKRD11 aberrations has been presented. PMID: 25424714
    7. we conclude that severe short stature, intellectual disability, and macrodontia are the main characteristics in KBG syndrome related to ANKRD11 mutation PMID: 25464108
    8. ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome. PMID: 25413698
    9. AIB1, AIB1-delta4 and ANCO1 are important determinants of endocrine and growth factor responsiveness in breast cancer. PMID: 24678732
    10. The complete neurological and psychiatric features observed in two patients with KBG syndrome due to ANKRD11 mutations, are reported. PMID: 23184435
    11. Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome. PMID: 23494856
    12. aberrant DNA methylation of three CpGs in a 19 bp region within the ANKRD11 promoter may be responsible for its down-regulation in breast cancer. PMID: 22538187
    13. Mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. PMID: 21782149
    14. ANKRD11 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome. PMID: 19920853
    15. Together, these results indicate that the transcriptional potential of ANCO-1 may be modulated by a combination of repression and activation signals. PMID: 17521611
    16. ANKRD11 has a role as a p53 coactivator and may be involved in a regulatory feedback loop with p53 PMID: 18840648

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  • 相关疾病：
    KBG syndrome (KBGS)
  • 亚细胞定位：
    Nucleus.
  • 数据库链接：

    HGNC: 21316

    OMIM: 148050

    KEGG: hsa:29123

    STRING: 9606.ENSP00000301030

    UniGene: Hs.335003