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  4. Recombinant Human Methyl-CpG-binding domain protein 5 (MBD5), partial

Recombinant Human Methyl-CpG-binding domain protein 5 (MBD5), partial

  • 中文名称：
    人MBD5重组蛋白
  • 货号：
    CSB-YP868388HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人MBD5重组蛋白
  • 货号：
    CSB-EP868388HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人MBD5重组蛋白
  • 货号：
    CSB-EP868388HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人MBD5重组蛋白
  • 货号：
    CSB-BP868388HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人MBD5重组蛋白
  • 货号：
    CSB-MP868388HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    MBD5
  • Uniprot No.：
    Q9P267
  • 别名：
    9430004D19Rik; AA536666; AI426407; C030040A15Rik; FLJ11113; FLJ30517; KIAA1461 ; MBD5; MBD5_HUMAN; methyl CpG binding domain protein 5; Methyl CpG binding protein MBD5 ; Methyl-CpG-binding domain protein 5; Methyl-CpG-binding protein MBD5; RP23 167N13.1
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

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MBD5 antibodies

靶点详情

  • 功能：
    Binds to heterochromatin. Does not interact with either methylated or unmethylated DNA (in vitro).
  • 基因功能参考文献：
    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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  • 相关疾病：
    Mental retardation, autosomal dominant 1 (MRD1)
  • 亚细胞定位：
    [Isoform 1]: Nucleus. Chromosome. Note=Associated with pericentric heterochromatin.; [Isoform 2]: Nucleus. Note=Not associated with pericentric heterochromatin.
  • 组织特异性：
    Detected in heart, placenta, liver, skeletal muscle, kidney and pancreas.
  • 数据库链接：

    HGNC: 20444

    OMIM: 156200

    KEGG: hsa:55777

    STRING: 9606.ENSP00000386049

    UniGene: Hs.458312

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