概述

  • 产品名称Anti-GBE1抗体
    参阅全部 GBE1 一抗
  • 描述
    小鼠多克隆抗体to GBE1
  • 经测试应用适用于: WBmore details
  • 种属反应性
    与反应: Human
    预测可用于: Horse
  • 免疫原

    Full length human GBE1 protein

  • 阳性对照
    • GBE1 transfected lysate and human liver lysate

性能

应用

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.

应用 Ab评论 说明
WB 1/500 - 1/1000. Detects a band of approximately 73 kDa (predicted molecular weight: 81 kDa).

靶标

  • 功能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.
  • 组织特异性Highest levels found in liver and muscle.
  • 通路Glycan biosynthesis; glycogen biosynthesis.
  • 疾病相关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.
  • 序列相似性Belongs to the glycosyl hydrolase 13 family.
  • Information by UniProt
  • 数据库链接
  • 别名
    • 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 图像

  • 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)参考文献

ab67523 has not yet been referenced specifically in any publications.

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