Recombinant Human Glycogen debranching enzyme (AGL), partial

中文名稱：

Recombinant Human Glycogen debranching enzyme(AGL) ,partial
貨號(hào)：

CSB-YP001446HU
規(guī)格：
來源：

Yeast
其他：

中文名稱：

Recombinant Human Glycogen debranching enzyme(AGL) ,partial
貨號(hào)：

CSB-EP001446HU
規(guī)格：
來源：

E.coli
其他：

中文名稱：

Recombinant Human Glycogen debranching enzyme(AGL) ,partial
貨號(hào)：

CSB-EP001446HU-B
規(guī)格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

Recombinant Human Glycogen debranching enzyme(AGL) ,partial
貨號(hào)：

CSB-BP001446HU
規(guī)格：
來源：

Baculovirus
其他：

中文名稱：

Recombinant Human Glycogen debranching enzyme(AGL) ,partial
貨號(hào)：

CSB-MP001446HU
規(guī)格：
來源：

Mammalian cell
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

>85% (SDS-PAGE)
基因名：

AGL
Uniprot No.：

P35573
別名：

1110061O17Rik; 4-1; 4-glucantransferase; 6-glucosidase; 9430004C13Rik; 9630046L06Rik; AGL; AI850929; Amylo 1 6 glucosidase 4 alpha glucanotransferase; Amylo-1; Amylo-alpha-1; C77197; Dextrin 6-alpha-D-glucosidase; GDE; GDE_HUMAN; Glycogen debrancher; Glycogen debranching enzyme; Glycogen storage disease type III; Oligo-1
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
蛋白標(biāo)簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產(chǎn)品提供形式：

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.
復(fù)溶：

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℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲(chǔ)存條件：

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

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項(xiàng)：

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

Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
基因功能參考文獻(xiàn)：
1. This report of patients with GSD-III in Iran with 2 uncommon clinical presentations and 5 novel mutations in the AGL gene. PMID: 29794575
2. The study identified 31 novel mutations and extended the mutation spectrum of AGL in Chinese patients with glycogen storage disease type III. PMID: 26984562
3. Our study establishes HAS2-mediated HA synthesis as a driver of growth of bladder cancer with low AGL and provides preclinical rationale for personalized targeting of HAS2/HA signaling in patients with low amylo-alpha-1-6-glucosidase-4-alpha-glucanotransferase -expressing tumors. PMID: 26490312
4. AGL loss causes high SHMT2 expression and consequently increases glycine-dependent nucleotide synthesis leading to bladder cancer growth. PMID: 26975021
5. Point mutations in AGL gene are associated with glycogen storage disease type IIIa in a Chinese family. PMID: 26252094
6. Haplotype analysis revealed that the mutation arises as a result of founder effect, not an independent event. PMID: 25827695
7. AGL haplotype analyses suggested that c.1019delA and c.958+1G>A are founder mutations in Turkish patients, while p.R864X is a recurrent mutation. PMID: 25451950
8. A homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect. PMID: 25602008
9. study identified 10 different mutations in 8 Korean Glycogen storage disease type III patients; 5 mutations are novel and include 1 nonsense (c.1461G>A, p.W487X), 3 splicing (c.293+4_293+6delAGT in IVS4, c.460+1G>T in IVS5, c.2682-8A>G in IVS21) and 1 missense mutation (c.2591G>C, p.R864P) PMID: 24257475
10. Characterization of a novel homozygous single point mutation at the polypyrimidine tract of intron 21 of the AGL gene in two consanguineous siblings with glycogen storage disease type III. PMID: 23649758
11. We found that most patients with macular telangiectasia-2 possess retinal autoantibodies, the most prevalent of which were directed against AGL, RBP3, and CK-B. PMID: 23882694
12. A founder effect discovered amongst Tunisian patients with glycogen storage disease type III and a c.3216_3217delGA mutation in the AGL gene. PMID: 22035446
13. Mutations in amylo-1,6-glucosidase is associated with Glycogen Storage Disease Type III. PMID: 20648714
14. The present patient was found to be deficient in GDE activity and homozygous for a novel 1 bp deletion in AGL. This mutation is predicted to cause premature termination at codon 834 due to frame shift. PMID: 20158661
15. GSD-III patients have variable phenotypic characteristics. Administration of raw-corn-starch can effectively improve the disease outcome. We identified 8 new mutations on AGL gene through nucleotide sequence analysis. PMID: 15833157
16. Nine AGL mutations: six nonsense mutations , one deletion and two splicing mutation were identified in Turkish GSD III patients. PMID: 19834502
17. Mutations associated with GSD III include R34X and Y1148X. PMID: 11924557
18. it is likely that the AMPK-GDE association is a novel mechanism regulating AMPK activity and the resultant fatty acid oxidation and glucose uptake PMID: 15886229
19. AGL gene mutations may have roles in glycogen storage disease type III PMID: 17047887
20. These results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease. PMID: 17908927
21. Current clinical and molecular knowledge about glycogenosis 3 and phenotype and genotype levels of this enzyme. [REVIEW] PMID: 17915576
22. a homozygous p.W1327X mutation leads to severe generalized glycogenosis types 3a & 3b within the same family; heterozygous p.W1327X mutation carriers may present with mild non-progressive neuromuscular symptoms, such as exercise-induced myalgia & fatigue PMID: 18924225
23. Mutations in the carbohydrate-binding domain of AGL lead to loss of all enzymatic activities and enhancing targeting for proteasomal degradation. PMID: 19299494
24. Six novel AGL mutations were identified. PMID: 19754354
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相關(guān)疾病：

Glycogen storage disease 3 (GSD3)
亞細(xì)胞定位：

Cytoplasm. Note=Under glycogenolytic conditions localizes to the nucleus.
蛋白家族：

Glycogen debranching enzyme family
組織特異性：

Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and muscle.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 321

OMIM: 232400

KEGG: hsa:178

STRING: 9606.ENSP00000294724

UniGene: Hs.904