|Application ||WB, IHC, IF, E|
|Calculated MW||59716 Da|
|Other Names||Glucosylceramidase, Acid beta-glucosidase, Alglucerase, Beta-glucocerebrosidase, Beta-GC, D-glucosyl-N-acylsphingosine glucohydrolase, Imiglucerase, GBA, GC, GLUC|
|Target/Specificity||GBA (NP_000148, 146 a.a. ~ 235 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||GBA Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants.
1.Parkin-mediated ubiquitination of mutant glucocerebrosidase leads to competition with its substrates PARIS and ARTS.Bendikov-Bar I, Rapaport D, Larisch S, Horowitz MOrphanet J Rare Dis. 2014 Jun 16;9:86. doi: 10.1186/1750-1172-9-86.2.Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.Murphy KE, Gysbers AM, Abbott SK, Tayebi N, Kim WS, Sidransky E, Cooper A, Garner B, Halliday GMBrain. 2014 Jan 28.3.Gaucher disease paradigm: From ERAD to comorbidity.Bendikov-Bar I, Horowitz M.Hum Mutat. 2012 Oct;33(10):1398-407. doi: 10.1002/humu.22124. Epub 2012 Jun 11.4.Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant.Bendikov-Bar I, Ron I, Filocamo M, Horowitz M.Blood Cells Mol Dis. 2010 Nov 22. [Epub ahead of print]5.Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J.Blood. 2009 Oct 8;114(15):3181-90. Epub 2009 Jul 8.
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