PNKD Antibody, Biotin conjugated

說明書

中文名稱：

PNKD兔多克隆抗體, Biotin偶聯
貨號：

CSB-PA843154LD01HU
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) PNKD Polyclonal antibody
Uniprot No.：

Q8N490
基因名：

PNKD
別名：

2210013N15Rik antibody; 2810403H05Rik antibody; AI854243 antibody; BRAIN PROTEIN 17 antibody; BRP17 antibody; DYT8 antibody; FKSG19 antibody; FPD1 antibody; KIAA1184 antibody; KIPP1184 antibody; MNCb-5687 antibody; MR-1 antibody; MR1 antibody; Myofibrillogenesis regulator 1 antibody; Paroxysmal nonkinesiogenic dyskinesia protein antibody; PDC antibody; PKND1 antibody; Pnkd antibody; PNKD_HUMAN antibody; Probable hydrolase PNKD antibody; TAHCCP2 antibody; Trans-activated by hepatitis C virus core protein 2 antibody
宿主：

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Probable hydrolase PNKD protein (78-243AA)
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：

Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
基因功能參考文獻：
1. The short isoform of the myofibrillogenesis regulator 1 (MR-1S) as a new COX assembly factor, which works with the highly conserved PET100 and PET117 chaperones to assist COX biogenesis in higher eukaryotes. PMID: 28199844
2. The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). PMID: 27005424
3. study highlights the frequency, novel mutations and clinical and molecular spectrum of PRRT2, SLC2A1 and PNKD mutations as well as the phenotype-genotype overlap among these paroxysmal movement disorders. PMID: 26598494
4. This study present the pedigree is the first PNKD family from Chinese Mainland, which is also the largest PNKD family among those reported across the globe. It included 5 generations and 26 patients. PMID: 25107857
5. MR-1 functions as a tumor promoter in MCF7 cells by activating the MEK/ERK signaling PMID: 25066297
6. MR-1 overexpression was tightly associated with more aggressive tumor behavior and a poor prognosis in pancreatic ductal adenocarcinoma. PMID: 23696030
7. MR-1 was up-regulated in gastric cancer tissues. High expression of MR-1 in gastric cancer was significantly correlated with clinical stage. Postoperative survival of the MR-1 positive group tended to be poorer than that of the MR-1 negative group. PMID: 23082061
8. A Taiwanese family with paroxysmal nonkinesigenic dyskinesia has a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients. PMID: 22967746
9. MR-1S is highly expressed in ovarian cancer cells and tissues. PMID: 22780969
10. In this report we present two families with paroxysmal non-kinesigenic dyskinesia of Southern European origin carrying a PNKD protein recurrent mutation. PMID: 21962874
11. Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability. PMID: 21487022
12. The pnkd mutation alters such a response, suggesting that a less flexible AC region may be more effective in coupling Ca(2+) binding to channel opening. PMID: 20620873
13. MR-1 is a novel myofibrillogenesis regulator in human muscle PMID: 15188056
14. Different missense mutations in exon 1 of MR1 that cosegregate with PNKD were identified in each multiplex family. These single-nucleotide mutations predicted substitution of valine for alanine in residue 7 in one family and residue 9 in the other. PMID: 15824259
15. autosomal dominant paroxysmal nonkinesigenic dyskinesia seems to be a homogenous disorder, for which the MR-1 gene is the major disease gene. PMID: 16632198
16. The Serbian family further demonstrates that recurrent MR-1 mutations are associated with paroxysmal nonkinesigenic dyskinesia. PMID: 16972263
17. Following down-regulation of MR-1, the phosphorylations of MLC2, focal adhesion kinase (FAK), and Akt were dramatically decreased PMID: 18948272
18. Our family was 1 of 8 families originally reported in which a mutation in the myofibrillogenesis regulator 1 (MR-1) gene caused the paroxysmal non-kinesigenic dyskinesia phenotype PMID: 18948699
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相關疾病：

Dystonia 8 (DYT8)
亞細胞定位：

[Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.
蛋白家族：

Metallo-beta-lactamase superfamily, Glyoxalase II family
組織特異性：

Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only.
數據庫鏈接：

HGNC: 9153

OMIM: 118800

KEGG: hsa:25953

STRING: 9606.ENSP00000273077

UniGene: Hs.98475

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