PKLR Antibody
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中文名稱：PKLR兔多克隆抗體
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貨號：CSB-PA018071GA01HU
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規(guī)格：￥3,900
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其他：
產(chǎn)品詳情
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Uniprot No.：
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基因名：
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別名：EC 2.7.1.40 antibody; KPYR_HUMAN antibody; L-PK antibody; Pk-1 antibody; PK1 antibody; PKL antibody; Pklg antibody; Pklr antibody; PKR antibody; PKRL antibody; Pyruvate kinase 1 antibody; Pyruvate kinase isozymes R/L antibody; Pyruvate kinase liver and blood cell antibody; Pyruvate kinase liver and RBC antibody; Pyruvate kinase liver and red blood cell antibody; Pyruvate kinase liver type antibody; Pyruvate kinase type L antibody; Pyruvate kinase, red cell type antibody; R type/L type pyruvate kinase antibody; R-PK antibody; R-type/L-type pyruvate kinase antibody; Red cell/liver pyruvate kinase antibody; RPK antibody
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宿主：Rabbit
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反應(yīng)種屬：Human,Mouse,Rat
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免疫原：Human PKLR
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免疫原種屬：Homo sapiens (Human)
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抗體亞型：IgG
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純化方式：Antigen Affinity purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA,WB
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Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產(chǎn)品評價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情
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功能：Plays a key role in glycolysis.
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基因功能參考文獻(xiàn)：
- A novel PKLR gene mutation was identified in members of a Chinese family with hemolytic anemia. PMID: 29349879
- Results show that different residues contribute to the two allosteric functions: regulation by the activator fructose-1,6-bisphosphate (Fru-1,6-BP) and alanine, the inhibitor. Only a small fraction of mutated residues perturbed inhibition by alanine. In contrast, a large percentage of mutated residues influenced activation by Fru-1,6-BP; inhibition by alanine is not simply the reverse of activation by Fru-1,6-BP. PMID: 28407397
- PKLR gene sequencing in 15 Spanish patients affected by pyruvate kinase deficiency (PKD) was performed. Six out of the 18 alleles found were new mutations which had not been described previously, with the PKLR c.721G>T mutation being the most prevalent (26.67%), followed by the PKLR c.1456C>T mutation (13.33%). PMID: 27871768
- Gene copy number variation (CNV) of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria. PMID: 28605553
- Genotype-phenotype correlations for the novel missense mutations found in the PKLR gene in PK deficiency among Tunisian cases were investigated by three-dimensional structure analysis. PMID: 28133914
- Data show that pyruvate kinase (PK) activity was decreased in the GATA1 hemizygous state and PKLR c.1284delA variant. PMID: 27342114
- An update of PKLR gene mutation database has been presented. (Review) PMID: 26832193
- Two Novel Missense Mutations and a 5bp Deletion in the Erythroid-Specific Promoter of the PKLR Gene in Two Unrelated Patients With Pyruvate Kinase Deficient Transfusion-Dependent Chronic Nonspherocytic Hemolytic Anemia. PMID: 26728349
- PKLR promotes colorectal cancer liver colonization through induction of glutathione synthesis. PMID: 26784545
- Pyruvate kinase variants modulate malaria phenotypes in a Thai population. PMID: 26658699
- 661G>A and 1528C>T mutations of PKLR gene are associated with pyruvate kinase deficiency. PMID: 26829734
- Case Report: unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice. PMID: 24969675
- This study determined which interactions in the fructose 1,6-bisphosphate binding site of human liver pyruvate kinase contribute to allostery. PMID: 25629396
- Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis. PMID: 25388786
- Hemolytic anemia associated with a novel heterozygous mutation 1183A in the pyruvate kinase gene has been found in two unrelated Jordanian patients. PMID: 24330591
- 11 patients from 10 unrelated pyruvate kinse deficiency families had 9 different disease-causing PKLR mutations, including 2 new ones: the point mutation c.878A>T (p.Asp293Val) and the frameshift deletion c.1553delG (p.(Arg518Leufs*12). PMID: 24533562
- A new type of inherited PK hyperactivity having solely increased expression of a kinetically normal PK-R had no mutations or copy number variants. An upregulatory mutation at an unlinked site is proposed. PMID: 24375447
- Herpes simplex virus type 1 virion-derived US11 inhibits type 1 interferon-induced protein kinase R phosphorylation. PMID: 23773021
- A global geographical co-distribution between malaria and high frequency of PK deficiency seems to occur suggesting that malaria may be a selective force raising the frequency of this 277Lys variant. PMID: 23082140
- investigation of structure-function relationship of the N-terminus of liver pyruvate kinase and its regulation by oxidation/oxidative coupling and post-translational phosphorylation PMID: 23270483
- Rich genetic diversity was detected in PKLR, including 59 single-nucleotide polymorphisms and several loss-of-function variants (frequency 1.5%). PMID: 21833022
- These results suggest that SARS coronavirus could reduce pyruvate kinase activity via its nucleocapsid protein, and this may in turn cause disease. PMID: 22222284
- We identified the pyruvate kinase liver/red cell enzyme gene mutation of 8 children previously diagnosed with pyruvate kinase deficiency who were living in a remote town in the western United States PMID: 21784452
- The results reveal an acetylation regulation of pyruvate kinase and the link between lysine acetylation and chaperone-mediated autophagy. PMID: 21700219
- Studies indicate that switching from pyruvate kinase spliced isoform PKM1 to PKM2 promotes aerobic glycolysis and provides a selective advantage for tumor formation, and the alternative splicing is controlled by hnRNP family members. PMID: 20978194
- Expression of pAkt, GLUT1 and TKTL1 were higher in breast cancer and DCIS than in normal tissue. Surprisingly, M2PK expression was highest in normal breast tissue. PMID: 19655166
- Erythrocyte pyruvate kinase was modified with bromopyruvate and the kinetic behavior of the modified enzyme was investigated as model for the mutant enzyme associated with nonspherocytic hemolytic anemia. PMID: 11916152
- first crystal structure of recombinant erythrocyte pyruvate kinase and the biochemical characterization of eight mutants found in nonspherocytic hemolytic anemia patients PMID: 11960989
- PKLR- GBA region shows almost complete linkage disequilibrium over 70 kb in a set of worldwide populations. PMID: 12107439
- Liver pyruvate kinase polymorphisms are associated with type 2 diabetes in northern European Caucasians. PMID: 12196482
- regulatory element is a necessary transcriptional regulatory element in the erythroid-specific promoter of the human pyruvate kinase gene PMID: 15727904
- The current work exploits a 'natural screen'- the 122 point mutations identified in the human gene encoding the erythrocyte PYK isozyme and associated with nonspherocytic hemolytic anemia. PMID: 16540430
- genotype-phenotype association in pyruvate kinase deficiency [review] PMID: 17360088
- Northern Ireland has uncovered 4 new cases of pyruvate kinase deficiency. Molecular investigation revealed a total of six different mutations PMID: 17574881
- 14 different mutations in the coding sequence of the R-PK gene in 74 Iranian individuals with low enzyme activity were identified; the most common were the G1168A and G1529A mutations at exon 11 occurring in 54% of the cases PMID: 17977029
- pyruvate kinase deficiency provides protection against infection and replication of P. falciparum in human erythrocytes, raising the possibility that mutant pyruvate kinase alleles may confer a protective advantage against malaria in human populations PMID: 18420493
- Pyruvate kinase deficiency protects against malaria in humans PMID: 18460648
- The investigators identified a patient with pyruvate kinase deficiency caused by a mutation in the PK-LR gene. PMID: 18683378
- identified the -148C>T mutation in the erythroidspecific promoter of PKLR in 3 unrelated patients with low PK activity PMID: 18698090
- pyruvate kinase gene mutations are associated with anemia in pyruvate kinase deficient patients. PMID: 18726918
- This is the first study to correlate the clinical profile with the molecular defects causing PK deficiency from India where 10 novel mutations that produce non-spherocytic haemolytic anaemia were identified. PMID: 18759866
- Data report novel alterations of enzymescinvolved in glucose metabolism, including pyruvate kinase, that may be associated with the pathophysiology of insulin resistance and of renal damage in patients with type 1 diabetes mellitus with nephropathy. PMID: 18840520
- Results provided a rationale for the observed enzyme deficiency and contribute to both a better understanding of the genotype-to-phenotype correlation in PK deficiency as well as the enzyme's structure and function. PMID: 19085939
- We failed to provide evidence of an association between PKLR rs3020781 and type 2 diabetes, overweight, obesity or related quantitative metabolic phenotypes in large-scale studies of Danes PMID: 19111066
- Results are consistent with a mechanism by which phosphorylation at L-PYK Ser12 interrupts an activating interaction of N-terminal residues (including those at positions 7-10) with the main body of the protein, as a means of inhibiting substrate affinity PMID: 19320443
- Decreased pyruvate kinase M2 expression to oxaliplatin resistance in patients with colorectal cancer. PMID: 19372549
- These data suggest that reduced erythrocyte ATP levels may contribute to the malaria protection displayed by pyruvate kinase deficient erythrocytes in vitro. PMID: 19743919
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相關(guān)疾病：Pyruvate kinase hyperactivity (PKHYP); Pyruvate kinase deficiency of red cells (PKRD)
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蛋白家族：Pyruvate kinase family
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