Recombinant Human Glucosylceramidase(GBA)

In Stock
Code CSB-BP009289HU(M)
Size US$986
  • (Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.

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Product Details

Purity Greater than 85% as determined by SDS-PAGE.
Target Names GBA
Uniprot No. P04062
Research Area Neuroscience
Alternative Names Acid beta glucosidase; Acid beta-glucosidase; Alglucerase; Beta glucocerebrosidase; BETA GLUCOSIDASE, ACID; Beta-glucocerebrosidase; betaGC; D glucosyl N acylsphingosine glucohydrolase; D-glucosyl-N-acylsphingosine glucohydrolase; EC; GBA; Gba protein; GBA1; GC; GCase; GCB; GLCM_HUMAN; GLUC; Glucocerebrosidase (alt.); Glucocerebrosidase; GLUCOCEREBROSIDASE PSEUDOGENE; Glucosidase beta; Glucosidase, beta, acid; Glucosidase, beta, acid (includes glucosylceramidase); Glucosylceramidase; Imiglucerase; Lysosomal glucocerebrosidase; OTTHUMP00000033992; OTTHUMP00000033993
Species Homo sapiens (Human)
Source Baculovirus
Expression Region 40-536aa
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
Mol. Weight 58.1 kDa
Protein Length Full Length of Mature Protein
Tag Info N-terminal 10xHis-tagged
Form Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
Buffer If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Reconstitution We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20°C/-80°C. Our default final concentration of glycerol is 50%. Customers could use it as reference.
and FAQs
Protein FAQs
Storage Condition Store at -20°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Lead Time Basically, we can dispatch the products out in 3-7 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Notes Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA Please contact us to get it.

Target Data

Gene References into Functions
  1. Chinese type 2 Gaucher disease patients have a similar phenotype to other ethnic groups and have a high prevalence of the c.1448T>C (p.Leu483Pro) mutation and recombination alleles. PMID: 29934114
  2. The binding affinities of a-1-C-alkyl 1,4-dideoxy-1,4-imino-d-arabinitol (DAB) derivatives, which act as pharmacological chaperones for beta-glucocerebrosidase, abruptly increased upon elongation of their alkyl chain. In this study, the primary causes of such an increase in binding affinity were analyzed using proteinligand docking and molecular dynamics simulations. PMID: 30340368
  3. The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with Parkinson's disease in the Finnish population PMID: 29029963
  4. that GBA variant E326K may fully account for the primary association signal observed at chromosome 1q22 in previous GWAS of PD PMID: 28830825
  5. lipid dyshomeostasis by GBA1 deficiency leads to decreased alpha-synuclein tetramers and increased alpha-synuclein monomers, which may provide the building blocks for phospho-Ser129-positive aggregates in GBA1-Parkinson's disease induced pluripotent stem cell-derived dopaminergic neurons PMID: 29311330
  6. This study found that 10/13 Parkinson's disease parents had a severe mutation and only 3/10 carried a mild mutation (binomial test P < 0.05). Using an unbiased methodology, this study showed that carriers of severe GBA mutations are at higher risk for Parkinson's disease relative to carriers of the mild mutations. PMID: 27864021
  7. The mutation spectrum of GBA exhibits ethnic and regional disparity in Asian patients. L444P was the most frequent mutation accounted for 47.7% in southern Chinese patients. The L444P homozygote genotype was associated with severe type 1 Gaucher disease. PMID: 27865684
  8. These results indicated activation of Unfolded Protein Response (UPR) in different cell types derived from Gaucher disease patients, highlighting the generality of this process in this disease. They also showed that the UPR-regulated CHOP transcription factor induces transcription of the GBA1 gene. PMID: 27856178
  9. The aims in the present study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect large deletions and/or duplications in GBA1 in Gaucher disease (GD) patients from Southern Brazil. Although larger deletions/duplications do not appear to be frequent in GD, the P338-X1 GBA kit for MLPA appears to be a good method for GBA1 analysis. PMID: 27825739
  10. The data of this study suggested that the prominent cognitive impairment in Glucocerebrosidase (GBA)-associated Parkinson disease seems not primarily associated with specific Abeta and Tau profiles in CSF. PMID: 29094781
  11. This study demonstrated that GBA status appears to be an important predictor for non-motor symptom disease progression, after deep brain stimulation surgery. PMID: 28777757
  12. The results of this study support a connection between the loss of beta-glucocerebrosidase-1 function, cholesterol accumulation, and the disruption of cellular homeostasis in GBA1-PD. PMID: 28779532
  13. comparative analysis of motor and non-motor features in LRRK2 and GBA mutation carriers and non-carriers conducted in a cohort from Brazil, a country with a highly miscegenated population. Similarly to other studies, our results suggest that mutations in GBA and LRRK2 influence the clinical signs of the Parkinson's disease, with significant implications for handling of specific patient groups. PMID: 28991672
  14. This study showed that Lysosomal defects GBA associated familial Parkinson's disease. PMID: 28894968
  15. In longitudinally assessed, autopsied Parkinson disease cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. PMID: 28834018
  16. Low Glucosylceramidase serum levels are associated with Gaucher disease. PMID: 28356566
  17. these findings highlight the critical role of GBA1 in mediating enhanced self-consumption of intracellular components and endomembranes, leading to autophagic cell death. PMID: 28574511
  18. examined the effect of heterozygous mutation status on 736 community-dwelling older adults without dementia or Parkinson's disease over an average of 6 years, 28 of whom had a single GBA mutation (primarily N370S); carriers showed greater decline in verbal memory over time;results suggest an effect, but an overall limited burden, of harboring a single GBA mutation in aging mutation carriers PMID: 28728889
  19. dose effect of mutations in the GBA gene on Parkinson's disease phenotype; severity of Parkinson's disease phenotype is related to the burden of GBA mutations with Gaucher disease-Parkinson's disease patients manifesting a more severe phenotype PMID: 28012950
  20. This study shown GBA genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism. PMID: 27269966
  21. This study showed that GBA L444P and SNCA Rep-1 were also associated with depression in Parkinson's disease. PMID: 27745782
  22. Parkinson's disease is associated with mutations in GBA. Ashkenazi Jews GBA carriers were singled at a significantly earlier age at diagnosis compared to noncarriers. PMID: 27449028
  23. GBA mutations are also an important risk factor for DLB development in the Spanish population, are associated with earlier disease onset, and are more prevalent in men. PMID: 27027900
  24. These results demonstrate the diagnostic usefulness of MLPA in the detection of GBA deletions and recombinations PMID: 27802905
  25. A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism has been summarized. (Review) PMID: 28596107
  26. Mutant GBA proteins cause increases in alpha-synuclein levels, while an inhibition of GBA by alpha-synuclein has been also demonstrated in Gaucher disease patients with Parkinson disease. (Review) PMID: 26965692
  27. GBA mutations as risk factors for PD and point to lysosomal dysfunction as a mechanism contributing to PD etiology. PMID: 27255555
  28. Parkinson patient who carry mutations in the GBA gene demonstrates more significant cognitive decline compared to idiopathic parkinson patients. PMID: 27401793
  29. Mesenchymal stem cells with reduced GBA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity. PMID: 28098348
  30. Local lysosomal conditions may be even more critical for some mutant lysosomal hydrolases, e.g. for mutant GBA1 . In Niemann-Pick disease type C disease, characterized by the cholesterol primary storage, GlcCer secondary accumulation could be triggered by SM secondary accumulation. PMID: 28126847
  31. the GBA1 gene, its role in Gaucher disease, and its link with Parkinson disease (Review) PMID: 26860875
  32. the decrease in enzymatic activity of lysosomal hydrolases in GBA mutation carriers may contribute to Parkinson disease pathogenesis by increasing the level of neurotoxic oligomeric alpha-synuclein species. PMID: 27780739
  33. the important contribution of GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. PMID: 27777137
  34. In a Flanders-Belgian cohort, carrier status of a heterozygous glucocerebrosidase (GBA) mutation was a strong genetic risk factor for Parkinson's disease (PD). The GBA mutation frequency of 4.5% is comparable to previously reported data in other European PD patient cohorts. PMID: 27397011
  35. Rab7 accumulated in GCase deficient cells, supporting the notion that lysosomal recycling is impaired. Since recombinant GCase can reverse ALR impairment, we anticipate that strategies to restore GCase activity in the brains of both sporadic patients with PD and those with GBA1 mutations will improve autophagy lysosomal pathway, preventing the accumulation of a-synuclein and spread of pathology. PMID: 27378698
  36. course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants PMID: 28030538
  37. The anti-enterovirus 71 activity of GBA1 was bimodal: endogenous GBA1 restricted cell surface expression levels of scavenger receptor class B, member 2 (SCARB2), also known as lysosomal integral membrane protein 2 (LIMP-2), and exogenous recombinant GBA1 interfered with enterovirus 71 to interact with SCARB2 outside the cell. PMID: 28141506
  38. identified the significant associations of the GBA L444P mutation and DYRK1A rs8126696 T allele with the earlier age at onset (AAO) in Parkinson's disease (PD) patients, and the A allele at MS4A6A rs610932 with the delayed AAO of PD. PMID: 27085534
  39. Results suggest that GBA1 mutations confer greater risk of neuropsychiatric morbidity in Parkinson disease, and that sex may affect this association PMID: 27772789
  40. Although a common ancestry among Southern Italian and Swedish Norrbottnian GD patients could not be investigated, the beta glucosidase genotype [L444P]+[L444P] is the most frequently encountered in Southern Italy PMID: 28003644
  41. Mutations in the GBA gene pathogenic for neuropathic GD and complex alleles shift longitudinal cognitive decline in PD into "high gear." PMID: 27717005
  42. In the clinical continuum between PD and DLB, patients with GBA mutations seem to localize midway, with carriers of severe mutations closer to DLB than to idiopathic PD. PMID: 27632223
  43. GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with Parkinson's. PMID: 27571329
  44. Mutations in the GBA gene were associated with more severe motor and cognitive dysfunction, supporting a specific contribution of the GBA gene or lysosome function in Lewy body disease among Ashkenazi Jews. PMID: 27723861
  45. GBA enzyme activity in Parkinson disease patients was lower in GBA mutation carriers vs. non-GBA carriers. PMID: 26857292
  46. Combination of chemo drug with beta-glucosidase 1 inhibitor sensitized hepatocellular carcinoma (HCC) cells to chemotherapy. Our data support b-glucosidase 1 as a HCC biomarker due to its prognosis significance PMID: 26849828
  47. the study supported that GBA mutations were a risk factor for Parkinson's disease in the European population PMID: 26868973
  48. The clinical phenotype of GBA-associated neurodegenerative disease is more heterogeneous than previously assumed, including phenotypes not usually associated with underlying alpha-synucleinopathies. PMID: 26549049
  49. there has been a boom in studies investigating the role of glucocerebrosidase in the pathology of Parkinson's disease. This merits a comprehensive review of the current cell biological processes and pathological pictures involving Parkinson's disease associated with GBA mutations PMID: 26743617
  50. GBA mutations were found to be a common genetic risk factor for Parkinson disease in Eastern Canadian patients. PMID: 26000814
  51. In this study, we produced hGCase through the direct injection of recombinant adenovirus in the mammary gland of a non-transgenic goat PMID: 26589705
  52. findings showed that Gaucher disease (GD)-associated GBA mutations were not only associated with the development of Parkinson's disease (PD) but also had a great impact on developing dementia and psychosis in the clinical course of PD PMID: 26422360
  53. This study discovery that E326K of GBA negatively impacts cognitive performance approximately doubles the proportion of PD patients PMID: 26296077
  54. This study showed the presence of six LRRK2 p.G2019S and nine GBA p.N370S mutation carriers in Parkinson disease. PMID: 26268663
  55. Its genetic variation influences Parkinson disease risk, age of onset, and progression. PMID: 26601739
  56. Our findings indicate that dGBA1b plays an important role in the metabolism of protein aggregates, but that the deleterious consequences of mutations in dGBA1b are largely independent of a-synuclein PMID: 27019408
  57. GBA1 mutations interfere with TFEB-mediated lysosomal biogenesis, and that the action of GBA in maintaining a functioning pool of lysosomes is exerted in part through TFEB. PMID: 26220978
  58. results suggests that the GBA gene may be a susceptibility gene for Parkinson's disease in the Chinese population (meta-analysis) PMID: 23286447
  59. the most frequent L444P mutation of the GBA gene may be associated with the development of early-onset Parkinson disease in the Hungarian population. PMID: 26547032
  60. This study did not demonstrate glucocerebrosidase substrate accumulation in Parkinson's disease brains with heterozygote GBA1 mutations in areas of the brain with low alpha-synuclein pathology. PMID: 26096906
  61. The most highly correlated pair of residue variations is alpha-synuclein A53T and glucocerebrosidase G115E. Intriguingly, the A53T mutation is a Parkinson's disease risk factor in humans, suggesting the pathology associated with this mutation PMID: 26214314
  62. The present study used a meta-analysis approach, pooling the appropriate data from published studies to investigate the association of GBA mutations and Parkinson's disease in a Chinese population. PMID: 25535748
  63. A pattern of combined segregation with GBA and LRRK2 was found in a Brazilian family with Parkinson's disease. PMID: 25952961
  64. Data indicate that the frequency of glucocerebrosidase gene (GBA) mutations within Chinese Parkinson's disease (PD) cohort was 8.7%, which is significantly higher than 1.54% observed in the control cohort. PMID: 25518742
  65. GBA1 depletion enhances cell-to-cell transmission of alpha-synuclein, conforming GBA1 role in alpha-syneclein transmission. PMID: 25156829
  66. GBA mutations are an important risk of Parkinson's disease in the Thai population. PMID: 24997549
  67. findings provide evidence for a link between GBA1 mutations and complex changes in the autophagic/lysosomal system and intracellular calcium homeostasis, which underlie vulnerability to neurodegeneration PMID: 24905578
  68. Although hrGCase cellular uptake is independent of LIMP-2, its trafficking to the lysosomes is mediated by this receptor. PMID: 26018676
  69. This study show that GBA-associated PD patients compared with non-mutation PD patients present with (1) more rapid disease progression of motor impairment and cognitive decline and (2) reduced survival rates. PMID: 25448271
  70. The association of lower glucocerebrosidase activity in both GBA mutation carriers and Parkinson's patients without GBA mutations suggests that loss of glucocerebrosidase function contributes to the pathogenesis of Parkinson's disease. PMID: 26117366
  71. Ceramide, the product of hydrolysis of glucosylceramide by GBA and involved in the regulation of cell differentiation, survival and apoptosis, is another putative candidate linking increased GBA activity to preeclampsia. PMID: 25552189
  72. Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation. PMID: 25813221
  73. mild and severe heterozygous GBA mutations differentially affect the risk and age at onset of Parkinson disease (Meta-Analysis) PMID: 25653295
  74. This study demonstrated that Glucocerebrosidase mutations in primary parkinsonism. PMID: 25249066
  75. Five novel mutations causing Gaucher disease reported. Slovak patients show a profile characteristic of European population, with the N370S, L444P and RecNciI mutations being the most prevalent. PMID: 25946768
  76. G202R mutation in glucocerebrosidases causes Gaucher disease. PMID: 25084554
  77. We propose a model of a-syn.GCase on the membrane, providing structural insights into inhibition of GCase by a-syn PMID: 25429104
  78. the Hsp90/HOP/Cdc37 complex recruits Hsp27 after recognition of GCase mutants with subsequent targeting of GCase mutant peptides to degradation mechanisms such as VCP and the 26S proteasome. PMID: 25583479
  79. Binding of C-terminal residues of Saposin C stabilizes glucocerebrosidase monomer. Dimer dissociation by Saposin C likely due to binding near enzymatic active site. PMID: 25600808
  80. GBA mutation-positive individuals show a deterioration in clinical markers consistent with the prodrome of Parkinson. PMID: 25506732
  81. L444P is the most common mutant allele with exons 8 and 10 as the hot spot region of GBA gene observed in Indian GD patients. PMID: 24522292
  82. The novel heterozygous mutations c.798C>G and c.1040T>G. in a consanguineous Iranian family were associated with 2 fatal untreated cases and 1 severe case successfully treated with enzyme replacement. PMID: 24577513
  83. The LIMP-2/SCARB2 binding sequences for enterovirus 71 and GCase are not similar, indicating that LIMP-2/SCARB2 may have multiple or overlapping binding sites with differing specificities. PMID: 25202012
  84. identification and functional characterization of 11 novel GBA mutations in Gaucher disease patients PMID: 24022302
  85. The N370S GBA mutation is the risk factor for cognitive impairment in Parkinson disease patients. PMID: 25168325
  86. GBA mutation status may be significantly associated with Parkinson's disease (Meta-Analysis) PMID: 24243800
  87. mutations in the GBA gene represent a genetic risk factor for sporadic Parkinson disease. PMID: 24095219
  88. Heterozygous GBA mutations are strong risk factors in FPD, especially for autosomal dominant Parkinson disease. PMID: 24126159
  89. Different short-term memory deficit patterns are associated with GBA mutation and with Parkinson's disease. PMID: 24919969
  90. GBA mutations represent a major genetic risk factor for the development of Parkinson disease (PD); GBA-PD is clinically, pharmacologically, and pathologically virtually indistinguishable from sporadic PD [review] PMID: 24219755
  91. meta-analysis provides evidence that both mutations are risk factors associated with increased PD susceptibility. PMID: 23676350
  92. Although the specific contribution of mutant GBA to the pathogenesis of parkinsonism remains unknown, evidence suggests that both loss of function and toxic gain of function by abnormal ss-glucocerebrosidase may be important. PMID: 23812893
  93. Patients with Gaucher disease and glucocerebrosidase heterozygotes have an increased age-specific risk for Parkinson disease compared with control individuals PMID: 24756352
  94. The lysosomal enzyme coding genes GBA which are associated with a 5-fold increased risk of Parkinson disease. PMID: 24262184
  95. study describes 2 novel mutations in 2 Type 1 Gaucher patients with N370S compound heterozygosity; a point mutation that causes an amino acid substitution at cysteine residue 23 for tryptophan, and a second point mutation within the splicing element at the 3' end of intron 7 PMID: 24434810
  96. There is now a well-established clinical association between mutations in the glucocerebrosidase gene and the development of more prevalent multifactorial disorders including Parkinson's disease and other synucleinopathies PMID: 24531622
  97. Glucocerebrosidase mutations are associated with reductions in glucosylceramidase activity and evidence of oxidative stress. PMID: 24574503
  98. Glucocerebrosidase deficits in sporadic Parkinson's disease are related to the abnormal accumulation of alpha-synuclein and are associated with substantial alterations in lysosomal chaperone-mediated autophagy pathways and lipid metabolism. PMID: 24477431
  99. This study demonustrated that GBA mutation related to Parkinson's disease in Gaucher disease. PMID: 23811968
  100. Mutations in GBA is associated with neurodevelopmental defects and ER stress in Drosophila eye. PMID: 23936319

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Involvement in disease Gaucher disease (GD); Gaucher disease 1 (GD1); Gaucher disease 2 (GD2); Gaucher disease 3 (GD3); Gaucher disease 3C (GD3C); Gaucher disease perinatal lethal (GDPL); Parkinson disease (PARK)
Subcellular Location Lysosome membrane, Peripheral membrane protein, Lumenal side
Protein Families Glycosyl hydrolase 30 family
Database Links

HGNC: 4177

OMIM: 168600

KEGG: hsa:2629

STRING: 9606.ENSP00000314508

UniGene: Hs.282997

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