Recombinant Human PKLR Protein (C-6His)

Name: Recombinant Human PKLR Protein (C-6His)
Brand: Beta LifeScience
SKU: BL-1400NP
Availability: InStock

BL-1400NP: Greater than 95% as determined by reducing SDS-PAGE. (QC verified)

Collections: High-quality recombinant proteins, Other recombinant proteins

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Product Overview

Description	Recombinant Human Pyruvate Kinase, Liver And RBC is produced by our Mammalian expression system and the target gene encoding Met1-Ser574 is expressed with a 6His tag at the C-terminus.
Accession	P30613
Synonym	Pyruvate Kinase Isozymes R/L; Pyruvate Kinase 1; R-Type/L-Type Pyruvate Kinase; Red Cell/Liver Pyruvate Kinase; PKLR; PK1; PKL
Gene Background	Pyruvate Kinase Isozymes R/L (PKLR) belongs to the pyruvate kinase family, There are 4 isozymes of pyruvate kinase in mammals: L, R, M1 and M2. L type is major isozyme in the liver; R is found in red cells; M1 is the main form in muscle, heart and brain; M2 is found in early fetal tissues. PKLR exists as a homotetramer and catalyzes the production of phosphoenolpyruvate from pyruvate and ATP. Defects in PKLR are also the cause of pyruvate kinase deficiency of red cells, which is a frequent cause of hereditary non-spherocytic hemolytic anemia.
Molecular Mass	62.9 KDa
Apmol Mass	58 KDa, reducing conditions
Formulation	Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 500mM NaCl, 5% Trehalose, 5% Mannitol, 0.02% Tween 80, 50% Glycerol, 1mM EDTA, 1mM DTT, pH8.0.
Endotoxin	Less than 0.1 ng/µg (1 EU/µg) as determined by LAL test.
Purity	Greater than 95% as determined by reducing SDS-PAGE. (QC verified)
Biological Activity	Not tested
Reconstitution
Storage	Store at ≤-70°C, stable for 6 months after receipt. Store at ≤-70°C, stable for 3 months under sterile conditions after opening. Please minimize freeze-thaw cycles.
Shipping	The product is shipped on dry ice/polar packs. Upon receipt, store it immediately at the temperature listed below.
Usage	For Research Use Only

Target Details

Target Function	Plays a key role in glycolysis.
Protein Families	Pyruvate kinase family
Database References	HGNC: 9020 OMIM: 102900 KEGG: hsa:5313 STRING: 9606.ENSP00000339933 UniGene: Hs.95990
Associated Diseases	Pyruvate kinase hyperactivity (PKHYP); Pyruvate kinase deficiency of red cells (PKRD)

Gene Functions References

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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Commonly used protectant include saccharides, polyols, polymers, surfactants, some proteins and amino acids etc. We usually add 8% (mass ratio by volume) of trehalose and mannitol as lyoprotectant. Trehalose can significantly prevent the alter of the protein secondary structure, the extension and aggregation of proteins during freeze-drying process; mannitol is also a universal applied protectant and fillers, which can reduce the aggregation of certain proteins after lyophilization.

Our protein products do not contain carrier protein or other additives (such as bovine serum albumin (BSA), human serum albumin (HSA) and sucrose, etc., and when lyophilized with the solution with the lowest salt content, they often cannot form A white grid structure, but a small amount of protein is deposited in the tube during the freeze-drying process, forming a thin or invisible transparent protein layer.

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