製品の概要

  • 製品名
  • 製品の詳細
    Rabbit polyclonal to Chd7
  • アプリケーション
    適用あり: ICC, ICC/IF, WB, IHC-Pmore details
  • 種交差性
    交差種: Mouse, Human
  • 免疫原

    An 18 amino acid synthetic peptide from near the N terminus of Human Chd7.

  • ポジティブ・コントロール
    • SK-N-SH cell lysate

製品の特性

アプリケーション

Our Abpromise guarantee covers the use of ab117522 in the following tested applications.

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

アプリケーション Abreviews 特記事項
ICC Use a concentration of 5 µg/ml.
ICC/IF Use a concentration of 20 µg/ml.
WB Use a concentration of 1 - 2 µg/ml. Predicted molecular weight: 336 kDa.
IHC-P Use at an assay dependent concentration.

ターゲット情報

  • 機能
    Probable transcription regulator.
  • 組織特異性
    Widely expressed in fetal and adult tissues.
  • 関連疾患
    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.
  • 配列類似性
    Belongs to the SNF2/RAD54 helicase family.
    Contains 2 chromo domains.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
  • 翻訳後修飾
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • 細胞内局在
    Nucleus.
  • Information by UniProt
  • 参照データベース
  • 別名
    • 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

画像

  • Immunofluorescence of Chd7 in mouse brain tissue with ab117522 at 20 ug/mL.
  • Lane 1 : Anti-Chd7 antibody (ab117522) at 1 µg/ml
    Lane 2 : Anti-Chd7 antibody (ab117522) at 2 µg/ml

    Lane 1 : SK-N-SH cell lysate
    Lane 2 : SK-N-SH cell lysate

    Lysates/proteins at 15 µg per lane.


    Predicted band size : 336 kDa
  • Immunohistochemistry of CHD7 in mouse brain tissue with ab117522 at 5 ug/mL.

参考文献

ab117522 has not yet been referenced specifically in any publications.

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