Recombinant Human Lysosomal Acid Glucosylceramidase (GBA1) Protein (His-SUMO&Myc)

Name: Recombinant Human Lysosomal Acid Glucosylceramidase (GBA1) Protein (His-SUMO&Myc)
Brand: Beta LifeScience
SKU: BLC-02828P
Availability: InStock

Greater than 85% as determined by SDS-PAGE.

Based on the SEQUEST from database of E.coli host and target protein, the LC-MS/MS Analysis result of this product could indicate that this peptide derived from E.coli-expressed Homo sapiens (Human) GBA.

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Product Overview

Description	Recombinant Human Lysosomal Acid Glucosylceramidase (GBA1) Protein (His-SUMO&Myc) is produced by our E.coli expression system. This is a full length protein.
Purity	Greater than 85% as determined by SDS-PAGE.
Uniprotkb	P04062
Target Symbol	GBA1
Synonyms	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 3.2.1.45; 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)
Expression System	E.coli
Tag	N-10His-SUMO&C-Myc
Target Protein Sequence	ARPCIPKSFGYSSVVCVCNATYCDSFDPPTFPALGTFSRYESTRSGRRMELSMGPIQANHTGTGLLLTLQPEQKFQKVKGFGGAMTDAAALNILALSPPAQNLLLKSYFSEEGIGYNIIRVPMASCDFSIRTYTYADTPDDFQLHNFSLPEEDTKLKIPLIHRALQLAQRPVSLLASPWTSPTWLKTNGAVNGKGSLKGQPGDIYHQTWARYFVKFLDAYAEHKLQFWAVTAENEPSAGLLSGYPFQCLGFTPEHQRDFIARDLGPTLANSTHHNVRLLMLDDQRLLLPHWAKVVLTDPEAAKYVHGIAVHWYLDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVVGWTDWNLALNPEGGPNWVRNFVDSPIIVDITKDTFYKQPMFYHLGHFSKFIPEGSQRVGLVASQKNDLDAVALMHPDGSAVVVVLNRSSKDVPLTIKDPAVGFLETISPGYSIHTYLWRRQ
Expression Range	40-536aa
Protein Length	Full Length of Mature Protein
Mol. Weight	75.6 kDa
Research Area	Neuroscience
Form	Liquid or Lyophilized powder
Buffer	Liquid form: default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, pH 8.0.
Storage	1. Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. 2. Avoid repeated freeze-thaw cycles. 3. Store working aliquots at 4°C for up to one week. 4. In general, protein in liquid form is stable for up to 6 months at -20°C/-80°C. Protein in lyophilized powder form is stable for up to 12 months at -20°C/-80°C.
Notes	Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Target Details

Target Function	Glucosylceramidase that catalyzes, within the lysosomal compartment, the hydrolysis of glucosylceramide/GlcCer into free ceramide and glucose. Thereby, plays a central role in the degradation of complex lipids and the turnover of cellular membranes. Through the production of ceramides, participates in the PKC-activated salvage pathway of ceramide formation. Also plays a role in cholesterol metabolism. May either catalyze the glucosylation of cholesterol, through a transglucosylation reaction that transfers glucose from glucosylceramide to cholesterol. The short chain saturated C8:0-GlcCer and the mono-unsaturated C18:0-GlcCer being the most effective glucose donors for that transglucosylation reaction. Under specific conditions, may alternatively catalyze the reverse reaction, transferring glucose from cholesteryl-beta-D-glucoside to ceramide. Finally, may also hydrolyze cholesteryl-beta-D-glucoside to produce D-glucose and cholesterol.
Subcellular Location	Lysosome membrane; Peripheral membrane protein; Lumenal side.
Protein Families	Glycosyl hydrolase 30 family
Database References	HGNC: 4177 OMIM: 168600 KEGG: hsa:2629 STRING: 9606.ENSP00000314508 UniGene: PMID: 29934114 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 The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with Parkinson's disease in the Finnish population PMID: 29029963 that GBA variant E326K may fully account for the primary association signal observed at chromosome 1q22 in previous GWAS of PD PMID: 28830825 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 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 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 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 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 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 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 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 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 This study showed that Lysosomal defects GBA associated familial Parkinson's disease. PMID: 28894968 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 Low Glucosylceramidase serum levels are associated with Gaucher disease. PMID: 28356566 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 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 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 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 This study showed that GBA L444P and SNCA Rep-1 were also associated with depression in Parkinson's disease. PMID: 27745782 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 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 These results demonstrate the diagnostic usefulness of MLPA in the detection of GBA deletions and recombinations PMID: 27802905 A novel function for glucocerebrosidase as a regulator of sterylglucoside metabolism has been summarized. (Review) PMID: 28596107 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 GBA mutations as risk factors for PD and point to lysosomal dysfunction as a mechanism contributing to PD etiology. PMID: 27255555 Parkinson patient who carry mutations in the GBA gene demonstrates more significant cognitive decline compared to idiopathic parkinson patients. PMID: 27401793 Mesenchymal stem cells with reduced GBA activity are prone to apoptosis and senescence due to impaired autophagy and DNA repair capacity. PMID: 28098348 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 the GBA1 gene, its role in Gaucher disease, and its link with Parkinson disease (Review) PMID: 26860875 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 the important contribution of GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. PMID: 27777137 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 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 course of motor and non-motor symptoms as well as treatment-related motor complications could be influenced by GBA variants PMID: 28030538 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 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 Results suggest that GBA1 mutations confer greater risk of neuropsychiatric morbidity in Parkinson disease, and that sex may affect this association PMID: 27772789 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 Mutations in the GBA gene pathogenic for neuropathic GD and complex alleles shift longitudinal cognitive decline in PD into "high gear." PMID: 27717005 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 GBA variants predict a more rapid progression of cognitive dysfunction and motor symptoms in patients with Parkinson's. PMID: 27571329 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 GBA enzyme activity in Parkinson disease patients was lower in GBA mutation carriers vs. non-GBA carriers. PMID: 26857292 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 the study supported that GBA mutations were a risk factor for Parkinson's disease in the European population PMID: 26868973 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 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 GBA mutations were found to be a common genetic risk factor for Parkinson disease in Eastern Canadian patients. PMID: 26000814

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Proteins are sensitive to heat, and freeze-drying can preserve the activity of the majority of proteins. It improves protein stability, extends storage time, and reduces shipping costs. However, freeze-drying can also lead to the loss of the active portion of the protein and cause aggregation and denaturation issues. Nonetheless, these adverse effects can be minimized by incorporating protective agents such as stabilizers, additives, and excipients, and by carefully controlling various lyophilization conditions.

Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

Reminder: Before opening the tube cap, we recommend that you quickly centrifuge for 20-30 seconds in a small centrifuge, so that the protein attached to the tube cap or the tube wall can be aggregated at the bottom of the tube. Our quality control procedures ensure that each tube contains the correct amount of protein, and although sometimes you can't see the protein powder, the amount of protein in the tube is still very precise.

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