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  4. MBD5 Antibody, HRP conjugated

MBD5 Antibody, HRP conjugated

  • 中文名稱：
    MBD5兔多克隆抗體, HRP偶聯(lián)
  • 貨號：
    CSB-PA868388LB01HU
  • 規(guī)格：
    ￥880
  • 其他：

產(chǎn)品詳情

  • 產(chǎn)品名稱：
    Rabbit anti-Homo sapiens (Human) MBD5 Polyclonal antibody
  • Uniprot No.：
  • 基因名：
    MBD5
  • 別名：
    9430004D19Rik antibody; AA536666 antibody; AI426407 antibody; C030040A15Rik antibody; FLJ11113 antibody; FLJ30517 antibody; KIAA1461 antibody; MBD5 antibody; MBD5_HUMAN antibody; methyl CpG binding domain protein 5 antibody; Methyl CpG binding protein MBD5 antibody; Methyl-CpG-binding domain protein 5 antibody; Methyl-CpG-binding protein MBD5 antibody; RP23 167N13.1 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human
  • 免疫原：
    Recombinant Human Methyl-CpG-binding domain protein 5 protein (623-840AA)
  • 免疫原種屬：
    Homo sapiens (Human)
  • 標記方式：
    HRP
  • 克隆類型：
    Polyclonal
  • 抗體亞型：
    IgG
  • 純化方式：
    >95%, Protein G purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    Preservative: 0.03% Proclin 300
    Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA
  • Protocols：
  • 儲存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評價

靶點詳情

  • 功能：
    Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).
  • 基因功能參考文獻：
    1. Based on segregation analysis of a patient (case 296491) with an intragenic deletion of the MBD5 gene, we classified deletions of exons 3 to 4 of the 5' untranslated region (UTR) of this gene as probably benign. The deletion of exon 3 was shared with the father and paternal uncle, both unaffected PMID: 28295210
    2. A novel frameshift mutation c.254_255delGA (p.Arg85Asnfs*6) in the MBD5 gene was identified in a family with intellectual disability and epilepsy. PMID: 28807762
    3. Circadian rhythm gene expression altered by haploinsufficiency of MBD5. PMID: 25271084
    4. Results show that when MBD5 and RAI1 are haploinsufficient, they perturb several common pathways that are linked to neuronal and behavioral development. PMID: 25853262
    5. Reduced MBD5 dosage leads to mRNA and microRNA expression patterns and DNA methylation patterns more characteristic of differentiating than proliferating neural stem cells. This balance change may underlie neurodevelopmental disorders. PMID: 25966365
    6. We studied and showed that both MBD5 and MBD6 interact with the mammalian PR-DUB Polycomb protein complex in a mutually exclusive manner, and that the MBD of MBD5 and MBD6 is both necessary and sufficient to mediate this interaction. PMID: 24634419
    7. The features associated with a deletion, mutation or duplication of MBD5 and the gene expression changes observed support MBD5 as a dosage-sensitive gene critical for normal development. PMID: 23632792
    8. study demonstrates that haploinsufficiency of MBD5 causes diverse phenotypes, yields insight into the spectrum of resulting neurodevelopmental and behavioral psychopathology and provides clinical context for interpretation of MBD5 structural variations. PMID: 23587880
    9. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. PMID: 24885232
    10. Identified de novo intragenic deletions of MBD5 in three patients. PMID: 23422940
    11. MBD5 was tied to neurodevelopmental disorders following the identification of microdeletions on chromosome 2q22-2q23. PMID: 23055267
    12. MBD5 is a single causal locus as shown by 2q23.1 microdeletion syndrome with roles in intellectual disability, epilepsy, and autism spectrum disorder PMID: 21981781
    13. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. PMID: 21271666
    14. MBD5 and MBD6 are unlikely to be methyl-binding proteins, yet they may contribute to the formation or function of heterochromatin. PMID: 20700456
    15. Haploinsufficiency of MBD5 is associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.( PMID: 19904302

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  • 相關(guān)疾?。?/div>
    Mental retardation, autosomal dominant 1 (MRD1)
  • 亞細胞定位：
    [Isoform 1]: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin.; [Isoform 2]: Nucleus. Note=Not associated with pericentric heterochromatin.
  • 組織特異性：
    Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas.
  • 數(shù)據(jù)庫鏈接：

    HGNC: 20444

    OMIM: 156200

    KEGG: hsa:55777

    STRING: 9606.ENSP00000386049

    UniGene: Hs.458312