製品の概要

  • 製品名Anti-GBE1 antibody
    GBE1 一次抗体 製品一覧
  • 製品の詳細
    Mouse polyclonal to GBE1
  • アプリケーション適用あり: WBmore details
  • 種交差性
    交差種: Human
    交差が予測される動物種: Horse
  • 免疫原

    Full length human GBE1 protein

  • ポジティブ・コントロール
    • GBE1 transfected lysate and human liver lysate

製品の特性

アプリケーション

Our Abpromise guarantee covers the use of ab67523 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
WB 1/500 - 1/1000. Detects a band of approximately 73 kDa (predicted molecular weight: 81 kDa).

ターゲット情報

  • 機能Required for sufficient glycogen accumulation. The alpha 1-6 branches of glycogen play an important role in increasing the solubility of the molecule and, consequently, in reducing the osmotic pressure within cells.
  • 組織特異性Highest levels found in liver and muscle.
  • パスウェイGlycan biosynthesis; glycogen biosynthesis.
  • 関連疾患Defects in GBE1 are the cause of glycogen storage disease type 4 (GSD4) [MIM:232500]; also known as Andersen disease. GSD4 is a metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of GSD4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity.
    Note=Neuromuscular perinatal glycogen storage disease type 4 is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders.
    Defects in GBE1 are the cause of adult polyglucosan body disease (APBD) [MIM:263570]. APBD is a late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBD is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
  • 配列類似性Belongs to the glycosyl hydrolase 13 family.
  • Information by UniProt
  • 参照データベース
  • 別名
    • 1 antibody
    • 1,4 alpha glucan branching enzyme antibody
    • 4-alpha-glucan-branching enzyme antibody
    • amylo (1,4 to 1,6) transglucosidase antibody
    • amylo (1,4 to 1,6) transglycosylase antibody
    • Andersen disease antibody
    • APBD antibody
    • Brancher enzyme antibody
    • GBE 1 antibody
    • GBE antibody
    • GBE1 antibody
    • gGlucan (1,4 alpha ), branching enzyme 1 antibody
    • GLGB_HUMAN antibody
    • Glucan (1,4 alpha) branching enzyme antibody
    • Glycogen branching enzyme antibody
    • Glycogen storage disease type IV antibody
    • Glycogen-branching enzyme antibody
    • GSD4 antibody
    • OTTHUMP00000213788 antibody
    • OTTHUMP00000213833 antibody
    see all

Anti-GBE1 antibody 画像

  • Anti-GBE1 antibody (ab67523) at 1/500 dilution + GBE1 expression in human liver at 25 µg

    Secondary
    Goat anti-mouse IgG (H&L)-HRP conjugate at 1/2500 dilution

    Predicted band size : 81 kDa
    Observed band size : 73 kDa (why is the actual band size different from the predicted?)
  • All lanes : Anti-GBE1 antibody (ab67523) at 1/500 dilution

    Lane 1 : GBE1 transfected lysate
    Lane 2 : Non-transfected lysate

    Lysates/proteins at 25 µg per lane.

    Secondary
    Goat anti-mouse IgG (H&L)-HRP conjugate at 1/2500 dilution

    Predicted band size : 81 kDa
    Observed band size : 72 kDa (why is the actual band size different from the predicted?)

Anti-GBE1 antibody (ab67523) 使用論文

ab67523 has not yet been referenced specifically in any publications.

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