Recombinant Human 5'-AMP-activated protein kinase subunit gamma-2 (PRKAG2)

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中文名稱：

人PRKAG2重組蛋白
貨號：

CSB-EP887021HU
說明書：

MSDS Datasheet
規格：

￥1836
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：

PRKAG2
Uniprot No.：

Q9UGJ0
別名：

PRKAG25'-AMP-activated protein kinase subunit gamma-2; AMPK gamma2; AMPK subunit gamma-2; H91620p
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Isoform B
來源：

E.coli
分子量：

41.5kDa
表達區域：

1-328aa
氨基酸序列

MLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANGVRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFKPLVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVDESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKETETE
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 Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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：

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.
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.
Datasheet & COA：

Please contact us to get it.

產品評價

靶點詳情

功能：

AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.
基因功能參考文獻：
1. molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. CMR offers promising advantages for evaluation of PRKAG2 cardiomyopathy. PMID: 28546535
2. PRKAG2-mutated iPSC-CMs displayed functional and structural abnormalities, which were abolished by correcting the mutation in the patient's iPSCs using CRISPR technology. PMID: 28917552
3. gamma2 AMPK activation downregulates fundamental sinoatrial cell pacemaker mechanisms to lower heart rate, including sarcolemmal hyperpolarization-activated current (I f) and ryanodine receptor-derived diastolic local subsarcolemmal Ca(2+) release. In contrast, loss of gamma2 AMPK induces a reciprocal phenotype of increased heart rate, and prevents the adaptive intrinsic bradycardia of endurance training. PMID: 29097735
4. Case Report: PRKAG2 missense mutation causing glycogen storage disease and severe biventricular hypertrophy and high-grade atrio-ventricular block. PMID: 27496753
5. We highlight the potential for patients with PRKAG2 mutations. PMID: 28801758
6. This study of patients with PRKAG2 mutations provides a more comprehensive view of the natural history of this disease and demonstrates a high risk of cardiac complications. Early recognition of this disease appears important to allow an appropriate management. PMID: 28431061
7. A novel missense genetic variant of unknown significance (GVUS) was detected in the PRKAG2 gene (c.869A>T, p.K290I). This novel GVUS has not been identified in any global population databases. PMID: 28690312
8. As in patients with PRKAG2 cardiomyopathy, iPS cell and mouse models are protected from cardiac fibrosis, and we define a crosstalk between AMPK and post-transcriptional regulation of TGFbeta isoform signaling that has implications in fibrotic forms of cardiomyopathy. PMID: 28009297
9. Identify a novel, de novo PRKAG2 mutation (K475E) in the cystathionine beta-synthase 3 repeat, a region critical for AMP binding, which affects AMP-activated protein kinase activity, activates cell growth pathways, and results in cardiac hypertrophy, which can be reversed with rapamycin. PMID: 28550180
10. PRKAG2 polymorphism maybe important factor treating hypertensive patients with hydrochlorothiazide. PMID: 27381900
11. Data suggest different gamma-isoforms in AMPK can have different effects on enzyme activation; here, activation of AMPK by compound 991 is greater if AMPK contains PRKAG2 versus PRKAG1 or PRKAG3. PMID: 28302767
12. mice with chronic AMPK activation, resulting from mutation of the AMPK gamma2 subunit, exhibit ghrelin signaling-dependent hyperphagia, obesity, and impaired pancreatic islet insulin secretion. Humans bearing the homologous mutation manifest a congruent phenotype. PMID: 27133129
13. PRKAG2 cardiac syndrome may present with eccentric distribution of LVH, involving focal mid-infero-lateral pattern in the early disease stage, and more diffuse pattern but focusing on interventricular septum in advanced cases. PMID: 26496977
14. Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in transgenic zebrafish. PMID: 23992123
15. Its mutation causes AMPK signaling abnormality which leads to cardiac syndrome. PMID: 23778007
16. The PRKAG2 autosomal dominant cardiac syndrome may be commonly characterized by Left Ventricular Hypertrophy, an accessory pathway, and progression to conduction disease requiring implantation of a pacemaker. PMID: 23810891
17. Data indicate that except AMPK-alpha1, expressions of the other five AMPK subunits -alpha2, -beta1, -beta2, -gamma1 and -gamma2 are significantly higher in ovarian carcinomas. PMID: 22897928
18. Single nucleotide polymorphisms in PRKAG2 is associated with drug response in breast cancer. PMID: 23034890
19. The authors found that the gene encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) strongly correlated with Zaire Ebolavirus transduction in the tumor cell panel. PMID: 23115293
20. found a significant association between the -26C/T polymorphism and cognitive impairment. Moreover, this polymorphism was also related to the presence of diabetes. PMID: 21813245
21. The mutation in the PRKAG2 gene was identified as responsible for the familial form of WPW syndrome in this Chinese family. PMID: 20381067
22. These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2). PMID: 21409595
23. no mutations were detected within the coding region of PRKAG2 in Wolff-Parkinson-White syndrome patients PMID: 20561859
24. Newly identified polymorphisms (amino acid substitutions) are likely associated with cardiac disease in type 2 diabetic patients. PMID: 20022652
25. This protein, transfected into a transgenic mouse, activates and mediates cardiac hypertrphic signaling pathways. PMID: 20005292
26. PRKAG2 R302Q mutant induces AMPK activation and increases glycogen content in cardiomyocytes. PMID: 20031621
27. Identified a novel mutation (Arg531Gly) in the PRKAG2 of AMP-activated protein kinase (AMPK) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease. PMID: 11748095
28. The role of the causative gene, gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase, in the regulation of the glucose metabolic pathway in muscle suggests that genetic defects in PRKAG2 may induce a cardiac glycogenosis syndrome. PMID: 12015471
29. Three of the mutations studied occur within the cystathionine beta-synthase (CBS) domains of gamma(2). Two of these mutations lead to a marked decrease in AMP dependence, whereas the third reduces AMP sensitivity. PMID: 12397075
30. unlike familial WPW syndrome, constitutional mutation of PRKAG2 is not commonly associated with sporadic WPW syndrome PMID: 12716108
31. mutations affecting PRKAG2 are likely to confer a specific alteration of AMPK function of particular importance in the myocardium PMID: 14519435
32. Transgenic mice expressing human mutant(TG(R302Q)) PRKAG2 gene with the cardiac-specific promoter alpha-myosin heavy chain have ventricular pre-excitation, prolonged QRS, excess cardiac glycogen and a distinct AV accessory pathway. PMID: 15611370
33. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities PMID: 15673802
34. The AMP kinase disease is uncommon in HCM and is characterized by progressive conduction disease and cardiac hypertrophy and includes extracardiac manifestations such as a skeletal myopathy. PMID: 15766830
35. Biochemical characterization of the recombinant R531Q mutant protein showed >100-fold reduction of binding affinities for the regulatory nucleotides AMP and ATP but an enhanced basal activity and increased phosphorylation of the alpha -subunit. PMID: 15877279
36. The PRKAG2 N488I mutation causes inappropriate AMPK activation, which leads to glycogen accumulation and heart conduction system disease when transfected into mice. PMID: 16275868
37. The study describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. PMID: 16487706
38. AMP-activated protein kinase is regulated by a pseudosubstrate sequence on the gamma subunit. PMID: 17255938
39. Altered AMPK gamma 2 subunit activity under normal energetic status remodels the cardiac metabolic network to cause a unique form of glycogen storage disease in transgenic mice. PMID: 17431505
40. four members of the same family with a very similar ECG pattern characterized by conduction defects and mutations in PRKAG2 gene PMID: 17483151
41. Human mutations which disrupt the nucleotide-binding affinity of the gamma2 subunit lead to loss of inhibition by ATP and inappropriate activate AMP-Kinase under resting conditions. PMID: 17990392
42. Gene analysis identified a R302Q mutation of the gamma2 subunit producing AMP protein kinase, coded by the gene PRKAG2, and associated with a heart conduction defect. PMID: 18033003
43. data provide insight into mechanisms of cardiac PRKAG2 disease and suggest that glycogen-storage cardiomyopathy can be modulated by lowering glycogen content in the heart PMID: 18158359
44. REVIEW. Compelling evidence exists that Prkag2 mutations cause a "gain of function" in basal AMPK activity, leading to excessive cellular glucose uptake and pathological glycogen storage in the heart, resulting in a potentially fatal cardiac phenotype. PMID: 18195183
45. Mutational analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. PMID: 19533775
46. Preexcitation associated with the R302Q mutation in PRKAG2 is associated with Mahaim fibers. PMID: 19808419
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相關疾病：

Wolff-Parkinson-White syndrome (WPWS); Cardiomyopathy, familial hypertrophic 6 (CMH6); Glycogen storage disease of heart lethal congenital (GSDH)
蛋白家族：

5'-AMP-activated protein kinase gamma subunit family
組織特異性：

Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
數據庫鏈接：

HGNC: 9386

OMIM: 194200

KEGG: hsa:51422

STRING: 9606.ENSP00000287878

UniGene: Hs.647072