MBD5 Antibody

說明書

中文名稱：

MBD5兔多克隆抗體
貨號(hào)：

CSB-PA013536GA01HU
規(guī)格：

￥3,900
其他：

產(chǎn)品詳情
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

Uniprot No.：

Q9P267
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,Mouse,Rat
免疫原：

Human MBD5
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產(chǎn)品提供形式：

Liquid
應(yīng)用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲(chǔ)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(jià)

靶點(diǎn)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(xiàn)：
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)疾病：

Mental retardation, autosomal dominant 1 (MRD1)
亞細(xì)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

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