Key features and details
- Rabbit polyclonal to GBE1
- Suitable for: IHC-P, WB
- Reacts with: Mouse, Human
- Isotype: IgG
Product nameAnti-GBE1 antibody
See all GBE1 primary antibodies
DescriptionRabbit polyclonal to GBE1
Tested applicationsSuitable for: IHC-P, WBmore details
Species reactivityReacts with: Mouse, Human
Recombinant fragment corresponding to Human GBE1 aa 1-300.
MAAPMTPAARPEDYEAALNAALADVPELARLLEIDPYLKPYAVDFQRRYK QFSQILKNIGENEGGIDKFSRGYESFGVHRCADGGLYCKEWAPGAEGVFL TGDFNGWNPFSYPYKKLDYGKWELYIPPKQNKSVLVPHGSKLKVVITSKS GEILYRISPWAKYVVREGDNVNYDWIHWDPEHSYEFKHSRPKKPRSLRIY ESHVGISSHEGKVASYKHFTCNVLPRIKGLGYNCIQLMAIMEHAYYASFG YQITSFFAASSRYGTPEELQELVDTAHSMGIIVLLDVVHSHASKNSADGL
Database link: Q04446
- WB: Mouse liver lysate. IHC-P: Human liver and thyroid tissues.
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Storage instructionsShipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C long term. Avoid freeze / thaw cycle.
Storage bufferpH: 7.30
Preservative: 0.02% Sodium azide
Constituents: 50% Glycerol (glycerin, glycerine), PBS
Concentration information loading...
PurityImmunogen affinity purified
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.
|IHC-P||1/20 - 1/200.|
|WB||1/1000 - 1/5000. Detects a band of approximately 80 kDa (predicted molecular weight: 80 kDa).|
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
- 1 antibody
- 1,4 alpha glucan branching enzyme antibody
- 1,4-alpha-glucan branching enzyme 1 antibody
Anti-GBE1 antibody (ab223799) at 1/1000 dilution + Mouse liver lysate
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.
ab223799 has not yet been referenced specifically in any publications.