PKP2 Antibody, Biotin conjugated

說明書

中文名稱：

PKP2兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA859116LD01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) PKP2 Polyclonal antibody
Uniprot No.：

Q99959
基因名：

PKP2
別名：

ARVD 9 antibody; ARVD9 antibody; PKP 2 antibody; PKP2 antibody; PKP2_HUMAN antibody; Plakophilin-2 antibody; Plakophilin2 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Plakophilin-2 protein (61-183AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

Biotin
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
產品提供形式：

Liquid
應用范圍：

ELISA
Protocols：

ELISA Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

May play a role in junctional plaques.
基因功能參考文獻：
1. Comparative analyses of the influenza-host protein interactomes identified PKP2 as a natural inhibitor of influenza A viruses polymerase complex. PMID: 28169297
2. Results identified common and rare variants within plakophilin 2 protein (PKP2) to be associated with left ventricular mass (LVM). PMID: 29288195
3. Our study describes various clinical parameters in ACM patients and a recessive plakophilin 2 mutation after a limited PKP2 gene sequencing. PMID: 29961461
4. Authors show that the PKP2 gene encoding the desmosomal protein Plakophilin-2 is a novel direct transcriptional target of Wnt/beta-catenin in normal and colon cancer-associated fibroblasts. PMID: 29044515
5. Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. PMID: 29034900
6. The rare incidence of PKP2 mutation in sudden unexplained noctural death syndrome (SUNDS, 1%) supports the previous viewpoint that SUNDS is most likely an allelic disorder as Brugada syndrome PMID: 27122407
7. Up-regulation of plakophilin-2 (PKP2) is correlated with the progression of glioma. Study uncovers a potential role for PKP2 in the pathogenic process of glioma, suggesting that PKP2 may be a promising therapeutic target of glioma. PMID: 28124385
8. Screening for CNVs in desmosome genes is useful to identify the genetic basis of disease in clinically suspected ARVC patients. PMID: 28431057
9. a novel homozygous Plakophilin 2-gene mutation has a role in advanced cardiomyopathy PMID: 29253866
10. An intronic mutation of c.2577+1G>T in the PKP2 gene causes a nonsyndromic form of Arrhythmogenic Right Ventricular Cardiomyopathy without cutaneous Involvements. PMID: 28523642
11. Data show that fetal pMSCs (mesenchymal stromal cells) expressing the highest levels of desmoglein 2, desmocollin 3 and plakophilin 2, followed by maternal pMSCs, while bmMSCs expressed the lowest levels. PMID: 28154962
12. Results show the involvement of plakophilin 2 protein (PKP2) in two siblings with severe cardiomyopathy with ventricular non compaction. PMID: 27030002
13. PKP2 c.419C>T did not associate with heart failure, arrhythmias, or premature death, with ARVC or HCM/DCM, or with effects in vitro, suggesting that this is not a disease-causing variant. PMID: 26264440
14. Family members - desmosomal mutation carriers who restricted exercise at or below the upper bound of the American Heart Association goal were less likely to be diagnosed and had no Ventricular Tachycardia. PMID: 26321091
15. Extreme variability in clinical penetrance for a splice-site PKP2 mutation was found in a Bangladeshi family. Some family members were affected by arrhythmogenic right ventricular cardiomyopathy, and some are asymptomatic. PMID: 25786693
16. Data suggest juxtamembrane regions/domains of desmocollin-2 (DSC2), plakophilin 2 (PKP2), and plakophilin 3 (PKP3) are involved in desmosome formation in epithelial cells; DSC2 participates in desmosome formation in absence of desmoglein 2 (DSG2). PMID: 25972099
17. Plakofilin2 mutation plays an important role in the pathogenesis of Brugada syndrome. PMID: 25889434
18. PKP2 regulates Wnt activity during adipogenic and cardiomyogenic differentiation in arrhythmogenic right ventricular cardiomyopathy. PMID: 26995964
19. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. PMID: 25398255
20. A heterozygous pathogenic variant in the plakophilin-2 (c.2392A>G, p.T798A) gene was found in an arrhythmogenic LV cardiomyopathy patient and his deceased mother who had had arrhythmogenic cardiomyopathy affecting both ventricles. PMID: 26260507
21. Six variants of uncertain clinical significance in the PKP2, JUP, and DSG2 genes showed a deleterious effect on mRNA splicing, indicating these are ARVD/C-related pathogenic splice site mutations. PMID: 25087486
22. Exercise test is valuable for the diagnosis of ARVC in patients with PKP2 gene mutation. PMID: 25936878
23. Case Report: PKP2/DSP mutations in patient with Brugada syndrome and ventricular tachycardia. PMID: 25900994
24. The introduction of the PKP2 R735X mutation into mice resulted in an exercise-dependent arrhythmogenic right ventricular cardiomyopathy. PMID: 25857910
25. PKP2 haploinsufficiency contributes to pathogenesis in arrhythmogenic cardiomyopathy. PMID: 24704780
26. mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy PMID: 24967631
27. PKP2 is a novel activator of the EGFR signaling pathway. PMID: 25113560
28. Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype. PMID: 24352520
29. The copy number variations analysis identified a heterozygous deletion of about 122 kb on chromosome 12p11.21, including the entire plakophilin-2 gene and shared by all affected family members. PMID: 23486541
30. Downstream Hippo molecules STE20-like protein kinases 1/2, large tumor suppressor kinases 1/2, and Yes-associated protein (YAP, the effector of the pathway) are phosphorylated, offering novel mechanisms for arrhythmogenic cardiomyopathy pathogenesis. PMID: 24276085
31. These data uncover a potential role for PKP2 upstream of beta1 integrin and RhoA in integrating cell-cell and cell-substrate contact signaling in basal keratinocytes. PMID: 23884246
32. Of a total of 715 Sudden cardiac death cases, seven (1.0%) carried one of the ten mutations assayed: three carried KCNH2 R176W, one KCNH2 L552S, two PKP2 Q59L, and one RYR2 R3570W. PMID: 23651034
33. PKP2 gene mutation is associated with arrhythmogenic cardiomyopathy in a large Dutch family. PMID: 23270881
34. Results show that PKP2 mutations are insufficient to cause ARVD due to variable expression and incomplete penetrance PMID: 23147395
35. haploinsufficiency is the most likely cause for the genesis of dominant arrhythmogenic right ventricular cardiomyopathy due to mutations in PKP2 PMID: 22781308
36. While many of the reported ARVC mutations are truncating mutations, the possibly damaging variant found in this family, is a missense alteration affecting a highly conserved residue 506 located in exon 7. PMID: 22170284
37. The authors report on a pedigree of cases involving a mutation in the plakophilin 2 gene that was associated with the development of arrhythmogenic right ventricular cardiomyopathy. PMID: 22035158
38. PKP2 mutations are not specific for arrhythmogenic right ventricular cardiomyopathy and may result in sudden unexpected death with negative autopsy. PMID: 22019812
39. PKP2 gene upregulation is associated with bladder cancer invasion. PMID: 22119253
40. PKP2A was shown to be the major isoform expressed in human heart tissue and PKP2B protein was undetectable; results strongly suggest that p.Arg490Trp and other variants located in PKP2 exon 6 may not be disease causing PMID: 21378009
41. Mutant plakophilin-2 proteins were unable to disrupt established desmosomes when expressed in an E-cadherin-expressing epithelial cell model; they were unable to initiate de novo assembly of desmosomes in an N-cadherin-expressing epithelial cell model. PMID: 19533476
42. Studies identified two mutations in DSG2, four in DSC2, two in DSP, four in JUP and seven in PKP2. PMID: 20864495
43. Adherens junctions connecting cardiac myxoma cells show exactly such general acquisition of Pkp2. PMID: 20693980
44. Data suggest that PKP2 may functionally link RhoA- and PKC-dependent pathways to drive actin reorganization. PMID: 20554761
45. Reduced connexin43 expression and localization to the intercalated disk occurs in heterozygous human PKP-2 mutations, potentially explaining the delayed conduction and propensity to develop arrhythmias seen in this disease. PMID: 18662195
46. Fifteen percent of Danish arrhythmogenic right ventricular cardiomyopathy/dysplasia patients carried PKP2 mutations. PMID: 19955750
47. mutations in plakophylin-2 (PKP2) gene in ARVC PMID: 19880068
48. Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling PMID: 11790773
49. In 32 of 120 unrelated individuals with ARVC, we identified heterozygous mutations in PKP2, which encodes plakophilin-2, an essential armadillo-repeat protein of the cardiac desmosome. PMID: 15489853
50. mutations in the desmosomal plakophilin-2 gene can cause arrhythmogenic right ventricular cardiomyopathy PMID: 16415378
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相關疾病：

Arrhythmogenic right ventricular dysplasia, familial, 9 (ARVD9)
亞細胞定位：

Nucleus. Cell junction, desmosome. Note=Nuclear and associated with desmosomes.
蛋白家族：

Beta-catenin family
組織特異性：

Detected in heart right ventricle (at protein level). Widely expressed. Found at desmosomal plaques in simple and stratified epithelia and in non-epithelial tissues such as myocardium and lymph node follicles. In most stratified epithelia found in the des
數據庫鏈接：

HGNC: 9024

OMIM: 602861

KEGG: hsa:5318

STRING: 9606.ENSP00000070846

UniGene: Hs.164384

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