Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ04446
    • SpeciesHuman
    • SequenceSEKHEGNKIIAFERAGLLFIFNFHPSKSYTDYRVGTALPGKFKIVLDSDA AEYGGHQRLDHSTDFFSEAFEHNGRPYSLLVYIPSRVALILQNVDLPN
    • Molecular weight36 kDa including tags
    • Amino acids605 to 702

Specifications

Our Abpromise guarantee covers the use of ab114841 in the following tested applications.

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

  • Applications

    ELISA

    SDS-PAGE

    Western blot

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    This protein is best used within three months from the date of receipt.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 1
    • 1,4 alpha glucan branching enzyme
    • 4-alpha-glucan-branching enzyme
    • amylo (1,4 to 1,6) transglucosidase
    • amylo (1,4 to 1,6) transglycosylase
    • Andersen disease
    • APBD
    • Brancher enzyme
    • GBE
    • GBE 1
    • GBE1
    • gGlucan (1,4 alpha ), branching enzyme 1
    • GLGB_HUMAN
    • Glucan (1,4 alpha) branching enzyme
    • Glycogen branching enzyme
    • Glycogen storage disease type IV
    • Glycogen-branching enzyme
    • GSD4
    • OTTHUMP00000213788
    • OTTHUMP00000213833
    see all
  • FunctionRequired 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 specificityHighest levels found in liver and muscle.
  • PathwayGlycan biosynthesis; glycogen biosynthesis.
  • Involvement in diseaseDefects 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 similaritiesBelongs to the glycosyl hydrolase 13 family.
  • Information by UniProt

Recombinant Human GBE1 protein images

  • ab114841 analysed by 12.5% SDS-PAGE and stained with Coomassie Blue.

References for Recombinant Human GBE1 protein (ab114841)

ab114841 has not yet been referenced specifically in any publications.

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