PNKD Antibody

Code CSB-PA018260GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
PNKD
Alternative Names
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
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human PNKD
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,IHC
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
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.

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Target Background

Function
Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway.
Gene References into Functions
  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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Involvement in disease
Dystonia 8 (DYT8)
Subcellular Location
[Isoform 1]: Membrane; Peripheral membrane protein.; [Isoform 2]: Cytoplasm. Nucleus.; [Isoform 3]: Mitochondrion.
Protein Families
Metallo-beta-lactamase superfamily, Glyoxalase II family
Tissue Specificity
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.
Database Links

HGNC: 9153

OMIM: 118800

KEGG: hsa:25953

STRING: 9606.ENSP00000273077

UniGene: Hs.98475

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