概述

  • 产品名称Anti-Chd7抗体
    参阅全部 Chd7 一抗
  • 描述
    山羊多克隆抗体to Chd7
  • 经测试应用适用于: WB, IPmore details
  • 种属反应性
    与反应: Human
    预测可用于: Mouse, Rat, Chicken
  • 免疫原

    Synthetic peptide:

    KDEIDEFANSPSE

    , corresponding to internal sequence amino acids 1865-1877 of Human Chd7

性能

应用

Our Abpromise guarantee covers the use of ab65097 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

应用 Ab评论 说明
WB Use at an assay dependent concentration. Predicted molecular weight: 336 kDa. PubMed: 24705355
IP Use at an assay dependent concentration. PubMed: 24705355

靶标

  • 功能Probable transcription regulator.
  • 组织特异性Widely expressed in fetal and adult tissues.
  • 疾病相关Defects in CHD7 are a cause of CHARGE syndrome (CHARGES) [MIM:214800]. This syndrome, which is a common cause of congenital anomalies, is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
    Genetic variations in CHD7 are associated with susceptibility to idiopathic scoliosis type 3 (IS3) [MIM:608765]. Idiopathic scoliosis (IS) is the most common spinal deformity in children.
    Defects in CHD7 are the cause of Kallmann syndrome type 5 (KAL5) [MIM:612370]. Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.
    Defects in CHD7 are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function.
  • 序列相似性Belongs to the SNF2/RAD54 helicase family.
    Contains 2 chromo domains.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
  • 翻译后修饰Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 细胞定位Nucleus.
  • Information by UniProt
  • 数据库链接
  • 别名
    • ATP-dependent helicase CHD7 antibody
    • ATP-dependent helicase chromodomain helicase DNA binding protein 7 antibody
    • CHD-7 antibody
    • Chd7 antibody
    • CHD7_HUMAN antibody
    • Chromodomain helicase DNA binding protein 7 antibody
    • chromodomain helicase DNA binding protein 7 isoform CRA_e antibody
    • Chromodomain-helicase-DNA-binding protein 7 antibody
    • FLJ20357 antibody
    • FLJ20361 antibody
    • HH5 antibody
    • IS3 antibody
    • KAL5 antibody
    • KIAA1416 antibody
    see all

Anti-Chd7 antibody (ab65097)参考文献

This product has been referenced in:
  • Schulz Y  et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet N/A:N/A (2014). WB, IP ; Human . Read more (PubMed: 24705355) »
  • Batsukh T  et al. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One 7:e52640 (2012). IP ; Human . Read more (PubMed: 23285124) »

See all 2 Publications for this product

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