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PNKD Antibody

  • 货号：
    CSB-PA018260GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q8N490
  • 基因名：
    PNKD
  • 别名：
    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
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human PNKD
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity Purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 功能：
    Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Dystonia 8 (DYT8)
  • 亚细胞定位：
    [Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.
  • 蛋白家族：
    Metallo-beta-lactamase superfamily, Glyoxalase II family
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 9153

    OMIM: 118800

    KEGG: hsa:25953

    STRING: 9606.ENSP00000273077

    UniGene: Hs.98475