Overview

  • Product name

  • Description

    Rabbit polyclonal to GBE1
  • Host species

    Rabbit
  • Tested applications

    Suitable for: IHC-P, WBmore details
  • Species reactivity

    Reacts with: Mouse, Human
  • Immunogen

    Recombinant fragment corresponding to Human GBE1 aa 1-300.
    Sequence:

    MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYK QFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFL TGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKS GEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIY ESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFG YQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL


    Database link: Q04446

  • Positive control

    • WB: Mouse liver lysate. IHC-P: Human liver and thyroid tissues.

Properties

Applications

Our Abpromise guarantee covers the use of ab223799 in the following tested applications.

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

Application Abreviews Notes
IHC-P 1/20 - 1/200.
WB 1/1000 - 1/5000. Detects a band of approximately 80 kDa (predicted molecular weight: 80 kDa).

Target

  • Function

    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.
  • Tissue specificity

    Highest levels found in liver and muscle.
  • Pathway

    Glycan biosynthesis; glycogen biosynthesis.
  • Involvement in disease

    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.
  • Sequence similarities

    Belongs to the glycosyl hydrolase 13 family.
  • Information by UniProt
  • Database links

  • Alternative names

    • 1 antibody
    • 1,4 alpha glucan branching enzyme antibody
    • 1,4-alpha-glucan branching enzyme 1 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

Images

  • Anti-GBE1 antibody (ab223799) at 1/1000 dilution + Mouse liver lysate

    Secondary
    Goat polyclonal to rabbit at 1/10000 dilution

    Predicted band size: 80 kDa
    Observed band size: 80 kDa

  • Paraffin-embedded human liver tissue stained for GBE1 using ab223799 at 1/100 dilution in immunohistochemical analysis.

  • Paraffin-embedded human thyroid tissue stained for GBE1 using ab223799 at 1/100 dilution in immunohistochemical analysis.

References

ab223799 has not yet been referenced specifically in any publications.

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