Recombinant Mouse Lysosomal acid Glucosylceramidase (Gba1)

^{In Stock}

中文名稱：

小鼠Gba重組蛋白
貨號：

CSB-YP009289MO
規格：

￥2208
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

Gba1
Uniprot No.：

P17439
別名：

GbaLysosomal acid glucosylceramidase; Lysosomal acid GCase; EC 3.2.1.45; Acid beta-glucosidase; Beta-glucocerebrosidase; Cholesterol glucosyltransferase; SGTase; EC 2.4.1.-; Cholesteryl-beta-glucosidase; EC 3.2.1.104; D-glucosyl-N-acylsphingosine glucohydrolase
種屬：

Mus musculus (Mouse)
蛋白長度：

Full Length of Mature Protein
來源：

Yeast
分子量：

57.5 kDa
表達區域：

20-515aa
氨基酸序列

AQPCIPKSFGYSSVVCVCNASYCDSLDPVTLPALGTFSRYESTRRGRRMELSVGAIQANRTGTGLLLTLQPEKKFQKVKGFGGAMTDATALNILALSPPTQKLLLRSYFSTNGIEYNIIRVPMASCDFSIRVYTYADTPNDFQLSNFSLPEEDTKLKIPLIHQALKMSSRPISLFASPWTSPTWLKTNGRVNGKGSLKGQPGDIFHQTWANYFVKFLDAYAKYGLRFWAVTAENEPTAGLFTGYPFQCLGFTPEHQRDFISRDLGPALANSSHDVKLLMLDDQRLLLPRWAEVVLSDPEAAKYVHGIAVHWYMDFLAPAKATLGETHRLFPNTMLFASEACVGSKFWEQSVRLGSWDRGMQYSHSIITNLLYHVTGWTDWNLALNPEGGPNWVRNFVDSPIIVDIPKDAFYKQPMFYHLGHFSKFIPEGSQRVALVASESTDLETVALLRPDGSAVVVVLNRSSEDVPLTISDPDLGFLETVSPGYSIHTYLWRRQ
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 6xHis-tagged
產品提供形式：

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.
緩沖液：

Tris-based buffer,50% glycerol
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

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.
貨期：

3-7 business days
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
產品描述：

Recombinant Full-length of mature Mouse Lysosomal acid Glucosylceramidase (Gba) with a 6xHis-tag at the N-terminus is produced in the yeast. It contains 20-515aa of mouse Gba. The SDS-PAGE measured its purity by up to 90%. On the reducing SDS-PAGE gel, the Gba protein migrated to a band of approximately 65 kDa. In addition to being used to produce specific antibodies, this recombinant Gba protein also may be applied to study its catalytic substrate-related metabolism.

Gba is a lysosomal enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. Genetic deficiency of Gba results in the accumulation of glucosylceramide in the lysosomes of macrophages, inducing the transformation of macrophages into Gaucher cells. The Gaucher cells infiltrate various organs such as bone marrow, spleen, and liver and are responsible for Gaucher's disease (GD), a recessively inherited disorder that affects the central nervous system to varying degrees.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

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.
基因功能參考文獻：
1. Thus, while the underlying mechanism is not clear, this model shows that gba deficiency impacts the age of onset and disease duration in aged SNCA(A53T) mice, providing a valuable resource to identify modifiers, pathways and possible moonlighting roles of glucocerebrosidase in Parkinson pathogenesis. PMID: 29173981
2. The data support the contention that prolonged antagonism of glucosylceramide synthase (GCS)in the central nervous system (CNS)can affect alpha-synuclein processing and improve behavioral outcomes. Hence, inhibition of GCS represents a disease-modifying therapeutic strategy for GBA-related synucleinopathies and conceivably for certain forms of sporadic disease PMID: 28223512
3. These results indicate that Gba1 deficiency enhances neuronal vulnerability to neurodegenerative processes triggered by increased alpha-synuclein expression. PMID: 28969384
4. This study demonstrated that the gba1 deficiency mice showed gene regulation expression of the type I interferon. PMID: 27175482
5. 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
6. heterozygosity for a Gaucher disease-associated mutation in glucocerebrosidase interferes with alpha-synuclein degradation and contributes to its accumulation PMID: 25351739
7. Data indicate that ABC transporter A family member 12 knockout (Abca12(-/-)) epidermis had 5-fold more beta-glucocerebrosidase (GCase) protein, and a 5-fold increase in GCase activity. PMID: 24293640
8. These results demonstrate, for the first time, a novel function of GBA1 as a beta-ChlGlc-synthesizing enzyme. PMID: 24211208
9. Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PMID: 23520473
10. GBA1 and GBA2 activities had characteristic differences between the studied fibroblast, liver and brain samples. PMID: 22659419
11. results not only point to a fundamental role for GBA in immune regulation but also suggest that GBA mutations in GD may cause widespread immune dysregulation through the accumulation of substrates PMID: 22665763
12. This study suggested that several leads connecting GBA1 mutations with alpha-synuclein misprocessing have emerged as potential targets for the treatment of GBA1-related synucleinopathies. PMID: 22327140
13. IFG stabilizes GCase in tissues and serum and can reduce visceral substrates in vivo. PMID: 22167193
14. Mutations in GBA1 can cause Parkinson disease-like alpha-synuclein pathology; rescuing brain glucocerebrosidase activity might represent a therapeutic strategy for GBA1-associated synucleinopathies. PMID: 21730160
15. evidence for the involvement of deletion of the GBA1 gene in multiple cell lineages in nonneuronopathic type 1 Gaucher disease PMID: 20962279
16. The saposin C deficient mice backcrossed to point mutated GCase mimics the central nervous system phenotype and biochemistry of some type 3 (neuronopathic) variants of Gaucher disease. PMID: 20047948
17. isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase PMID: 20148966
18. Saposin C has multiple roles in glycosphingolipid catabolism and functions in Central Nervous System independent of its role as an stabilizer of GCase. PMID: 20015957
19. mRNA shows generalized low level expression early in gestation with gradual appearance of differential expression appearing around gestational age E14 and significantly increasing at term and into adulthood. PMID: 11749048
20. Results indicate that glucocerebrosidase deficiency, even in the absence of large amounts of sphingolipid storage, can trigger an inflammatory reaction. PMID: 11994410
21. data indicate that saposin C is required for acid beta-glucosidase resistance to proteolytic degradation in the cell PMID: 12813057
顯示更多

收起更多
亞細胞定位：

Lysosome membrane; Peripheral membrane protein; Lumenal side.
蛋白家族：

Glycosyl hydrolase 30 family
數據庫鏈接：

KEGG: mmu:14466

STRING: 10090.ENSMUSP00000076589

UniGene: Mm.5031