CHD2 Antibody

說明書

中文名稱：

CHD2兔多克隆抗體
貨號：

CSB-PA005327ESR1HU
規格：

￥440
圖片：
Immunohistochemistry of paraffin-embedded human testis tissue using CSB-PA005327ESR1HU at dilution of 1:100

Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA005327ESR1HU at dilution of 1:100
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) CHD2 Polyclonal antibody
Uniprot No.：

O14647
基因名：

CHD2
別名：

2810013C04Rik antibody; 2810040A01Rik antibody; 5630401D06Rik antibody; AI851092 antibody; ATP dependent helicase CHD2 antibody; ATP-dependent helicase CHD2 antibody; BC029703 antibody; CHD 2 antibody; CHD-2 antibody; CHD2 antibody; CHD2_HUMAN antibody; chromodomain helicase dna binding protein antibody; Chromodomain-helicase-DNA-binding protein 2 antibody; DKFZp547I1315 antibody; DKFZp686E01200 antibody; DKFZP781D1727 antibody; EC 3.6.1.- antibody; EEOC antibody; FLJ38614 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Chromodomain-helicase-DNA-binding protein 2 protein (1569-1828AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Non-conjugated
克隆類型：

Polyclonal
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 0.02% sodium azide, 50% glycerol, pH7.3.
產品提供形式：

Liquid
應用范圍：

ELISA, IHC

推薦稀釋比：

Application	Recommended Dilution
IHC	1:20-1:200

Protocols：

ELISA Protocol
Immunohistochemistry (IHC) Protocol
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.

產品評價

靶點詳情

功能：

DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression.
基因功能參考文獻：
1. Germline mosaicism resulted in a CHD2 gene missense variant and the development of autism spectrum disorder in two siblings. PMID: 28960266
2. study reports monozygotic twins with a global neurodevelopmental delay associated with an autism spectrum disorder, hypotonia, postnatal microcephaly, stereotypic movements and circadian rhythm alterations in association with late-onset epilepsy; identified a CHD2 mutation, previously described in association with a phenotypic spectrum overlapping our patients' phenotype PMID: 26754451
3. Results indicate a PARP1-dependent mechanism that regulates non-homologous end-joining through localized chromatin expansion and deposition of the histone variant H3.3 by CHD2 at DNA breaks promoting DNA repair. PMID: 26895424
4. CHD2 mutations are responsible in rare cases for generalized epilepsy with myoclonic-atonic seizures. PMID: 26262932
5. CHD2 is a cancer driver and has a role as chromatin remodeler in chronic lymphocytic leukemia. PMID: 26031915
6. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome PMID: 25783594
7. The phenotypic spectrum of CHD2 encephalopathy has distinctive features of myoclonic epilepsy with marked photosensitivity. PMID: 25672921
8. Human CHD2 is a chromatin assembly ATPase regulated by its chromatin- and DNA-binding domains. PMID: 25384982
9. Our findings suggest that CHD2 mutations are important in the etiological spectrum of Lennox-Gastaut syndrome. PMID: 24614520
10. De novo loss-of-function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures. PMID: 24207121
11. De novo CHD2 and SYNGAP1 mutations are new causes of epileptic encephalopathies, accounting for 1.2% and 1% of cases, respectively. PMID: 23708187
12. detected a homozygous deletion of chromosomal region 15q26.2 in the cell line HDLM2 encompasing RGMA and CHD2 PMID: 17606441
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相關疾病：

Epileptic encephalopathy, childhood-onset (EEOC)
亞細胞定位：

Nucleus.
蛋白家族：

SNF2/RAD54 helicase family
數據庫鏈接：

HGNC: 1917

OMIM: 602119

KEGG: hsa:1106

STRING: 9606.ENSP00000377747

UniGene: Hs.220864

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