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  4. CHD2 Antibody

CHD2 Antibody

  • 货号：
    CSB-PA005327GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    O14647
  • 基因名：
  • 别名：
    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
  • 反应种属：
    Human,Rat
  • 免疫原：
    Human CHD2
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • 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：
    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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Epileptic encephalopathy, childhood-onset (EEOC)
  • 亚细胞定位：
    Nucleus.
  • 蛋白家族：
    SNF2/RAD54 helicase family
  • 数据库链接：

    HGNC: 1917

    OMIM: 602119

    KEGG: hsa:1106

    STRING: 9606.ENSP00000377747

    UniGene: Hs.220864