Anti-GBA antibody (ab55080)
Key features and details
- Mouse monoclonal to GBA
- Suitable for: WB, IHC-P, ICC/IF
- Knockout validated
- Reacts with: Human
- Isotype: IgG2a
Overview
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Product name
Anti-GBA antibody
See all GBA primary antibodies -
Description
Mouse monoclonal to GBA -
Host species
Mouse -
Tested Applications & Species
See all applications and species dataApplication Species ICC/IF HumanIHC-P HumanWB Human
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Immunogen
Recombinant fragment (GST-tag) corresponding to Human GBA aa 146-236.
Sequence:SYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKL KIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGS
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General notes
This product was changed from ascites to tissue culture supernatant on 15 May 2019. Please note that the dilutions may need to be adjusted accordingly. If you have any questions, please do not hesitate to contact our scientific support team.
Properties
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Form
Liquid -
Storage instructions
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. -
Storage buffer
pH: 7.4 -
Concentration information loading... -
Purity
Protein A purified -
Clonality
Monoclonal -
Isotype
IgG2a -
Light chain type
kappa -
Research areas
Associated products
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Compatible Secondaries
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Isotype control
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Recombinant Protein
Applications
The Abpromise guarantee
Our Abpromise guarantee covers the use of ab55080 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Tested applications are guaranteed to work and covered by our Abpromise guarantee.
Predicted to work for this combination of applications and species but not guaranteed.
Does not work for this combination of applications and species.
| Application | Species |
|---|---|
| ICC/IF |
Human
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| IHC-P |
Human
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| WB |
Human
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| Application | Abreviews | Notes |
|---|---|---|
| WB | (2) |
Use at an assay dependent concentration. Predicted molecular weight: 60 kDa.
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| IHC-P |
Use at an assay dependent concentration.
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| ICC/IF |
Use at an assay dependent concentration.
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| Notes |
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WB
Use at an assay dependent concentration. Predicted molecular weight: 60 kDa. |
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IHC-P
Use at an assay dependent concentration. |
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ICC/IF
Use at an assay dependent concentration. |
Target
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Involvement in disease
Defects in GBA are the cause of Gaucher disease (GD) [MIM:230800]; also known as glucocerebrosidase deficiency. GD is the most prevalent lysosomal storage disease, characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset.
Defects in GBA are the cause of Gaucher disease type 1 (GD1) [MIM:230800]; also known as adult non-neuronopathic Gaucher disease. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Defects in GBA are the cause of Gaucher disease type 2 (GD2) [MIM:230900]; also known as acute neuronopathic Gaucher disease. GD2 is the most severe form and is universally progressive and fatal. It manifests soon after birth, with death generally occurring before patients reach two years of age.
Defects in GBA are the cause of Gaucher disease type 3 (GD3) [MIM:231000]; also known as subacute neuronopathic Gaucher disease. GD3 has central nervous manifestations.
Defects in GBA are the cause of Gaucher disease type 3C (GD3C) [MIM:231005]; also known as pseudo-Gaucher disease or Gaucher-like disease.
Defects in GBA are the cause of Gaucher disease perinatal lethal (GDPL) [MIM:608013]. It is a distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism.
Note=Perinatal lethal Gaucher disease 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 GBA contribute to susceptibility to Parkinson disease (PARK) [MIM:168600]. A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. -
Sequence similarities
Belongs to the glycosyl hydrolase 30 family. -
Cellular localization
Lysosome membrane. Interaction with saposin-C promotes membrane association. - Information by UniProt
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Database links
- Entrez Gene: 2629 Human
- Omim: 606463 Human
- SwissProt: P04062 Human
- Unigene: 282997 Human
- Unigene: 719930 Human
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Alternative names
- Acid beta glucosidase antibody
- Acid beta-glucosidase antibody
- Alglucerase antibody
see all
Images
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Western blot - Anti-GBA antibody (ab55080)
Lane 1: Wild-type HAP1 whole cell lysate (40 µg)
Lane 2: GBA knockout HAP1 whole cell lysate (40 µg)
Lane 3: MCF7 whole cell lysate (40 µg)
Lane 4: HepG2 whole cell lysate (40 µg)Lanes 1 - 4: Merged signal (red and green). Green - ab55080 observed at 70 kDa. Red - loading control, ab181602, observed at 37 kDa.
ab55080 was shown to specifically react with GBA in wild-type HAP1 cells along with additional cross-reactive bands. No bands were observed when GBA knockout samples were used. Wild-type and GBA knockout samples were subjected to SDS-PAGE. Ab55080 and ab181602 (Rabbit anti GAPDH loading control) were incubated overnight at 4°C at 1 ug/ml and 1/10,000 dilution respectively. Blots were developed with Goat anti-Mouse IgG H&L (IRDye® 800CW) preabsorbed (ab216772) and Goat anti-Rabbit IgG H&L (IRDye® 680RD) preabsorbed (ab216777) secondary antibodies at 1/10,000 dilution for 1 hour at room temperature before imaging.
This image was generated using the ascites version of the product.
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Immunocytochemistry/ Immunofluorescence - Anti-GBA antibody (ab55080)ab55080 at 10 ug/ml staining GBA in human Hela cells by Immunocytochemistry/ Immunofluorescence.
This image was generated using the ascites version of the product.
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Western blot - Anti-GBA antibody (ab55080)GBA antibody (ab55080) at 1ug/lane + MCF-7 cell lysate at 25ug/lane.
This image was generated using the ascites version of the product.
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Immunohistochemistry (Formalin/PFA-fixed paraffin-embedded sections) - Anti-GBA antibody (ab55080)GBA antibody (ab55080) used in immunohistochemistry at 3ug/ml on formalin fixed and paraffin embedded human breast cancer.
This image was generated using the ascites version of the product.
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Western blot - Anti-GBA antibody (ab55080)This image is a courtesy of Anonymous AbreviewAll lanes : Anti-GBA antibody (ab55080) at 1/1000 dilution
Lane 1 : Lysate prepared from MOCK
Lane 2 : Lysate prepared from human HN10 cells
Lysates/proteins at 10 µg per lane.
Secondary
All lanes : IRDye® donkey polyclonal to mouse IgG at 1/3000 dilution
Performed under reducing conditions.
Predicted band size: 60 kDa
Observed band size: 60 kDa
Exposure time: 1 minuteThis image was generated using the ascites version of the product.
Protocols
References (9)
ab55080 has been referenced in 9 publications.
- Sanyal A et al. LRRK2 Kinase Inhibition Rescues Deficits in Lysosome Function Due to Heterozygous GBA1 Expression in Human iPSC-Derived Neurons. Front Neurosci 14:442 (2020). PubMed: 32499675
- Drews K et al. Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis. J Virol 93:N/A (2019). PubMed: 30918081
- Dopeso-Reyes IG et al. Glucocerebrosidase expression patterns in the non-human primate brain. Brain Struct Funct 223:343-355 (2018). IHC-FrFl . PubMed: 28835999
- Yang C et al. Celastrol increases glucocerebrosidase activity in Gaucher disease by modulating molecular chaperones. Proc Natl Acad Sci U S A 111:249-54 (2014). PubMed: 24351928
- McNeill A et al. Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain 137:1481-95 (2014). WB, ICC/IF ; Human . PubMed: 24574503
- Bae EJ et al. Glucocerebrosidase depletion enhances cell-to-cell transmission of a-synuclein. Nat Commun 5:4755 (2014). PubMed: 25156829
- Tiscornia G et al. Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. Hum Mol Genet : (2012). WB ; Human . PubMed: 23118351
- Lu J et al. Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci U S A 108:21200-5 (2011). WB ; Human . PubMed: 22160715
- Lu J et al. Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl. Proc Natl Acad Sci U S A : (2010). ICC/IF ; Human . PubMed: 21098288
