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Pyruvate kinase isozymes R/L (PKLR)

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PK; PyK; PK1; PKL; Pyruvate Kinase Isozymes R/L; Glutamic--pyruvic transaminase 1; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase

Pyruvate kinase isozymes R/L (PKLR)
CCC A208
HGNC 9020
MGI 97604
PubMed 19085939
RGD 3336
UniProt P30613
Wiki PKLR

Pyruvate kinase is an enzyme involved in glycolysis. It catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to ADP, yielding a pyruvate molecule and producing one molecule ATP.

Genetic defects of this enzyme cause the disease known as pyruvate kinase deficiency. In this condition, a lack of pyruvate kinase slows down the process of glycolysis. This effect is especially devastating in cells that lack mitochondria, because these cells must use anaerobic glycolysis as their sole source of energy because the TCA cycle is not available. One example is red blood cells, which in a state of pyruvate kinase deficiency rapidly become deficient in ATP and can undergo hemolysis. Therefore, pyruvate kinase deficiency can cause hemolytic anemia.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA208Hu01 Recombinant Pyruvate kinase isozymes R/L (PKLR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA208Hu01 Polyclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
MAA208Hu22 Monoclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
Assay Kits SEA208Hu ELISA Kit for Pyruvate kinase isozymes R/L (PKLR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA208Mu01 Recombinant Pyruvate kinase isozymes R/L (PKLR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA208Mu01 Polyclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
Assay Kits SEA208Mu ELISA Kit for Pyruvate kinase isozymes R/L (PKLR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA208Ra01 Recombinant Pyruvate kinase isozymes R/L (PKLR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA208Ra01 Polyclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
MAA208Ra21 Monoclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
Assay Kits SEA208Ra ELISA Kit for Pyruvate kinase isozymes R/L (PKLR) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Canis familiaris; Canine (Dog)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPA208Ca01 Recombinant Pyruvate kinase isozymes R/L (PKLR) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAA208Ca01 Polyclonal Antibody to Pyruvate kinase isozymes R/L (PKLR) WB; IHC; ICC; IP.
Assay Kits n/a CLIA Kit for Pyruvate kinase isozymes R/L (PKLR) CLIA Kit Customized Service Offer
n/a ELISA Kit for Pyruvate kinase isozymes R/L (PKLR) ELISA Kit Customized Service Offer
  1. "cDNA cloning of human R-type pyruvate kinase and identification of a single amino acid substitution (Thr384-->Met) affecting enzymatic stability in a pyruvate kinase variant (PK Tokyo) associated with hereditary hemolytic anemia."Proc. Natl. Acad. Sci. U.S.A. 88:8218-8221(1991) [PubMed] [Europe PMC] [Abstract]
  2. "Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells."Proc. Natl. Acad. Sci. U.S.A. 85:1792-1795(1988) [PubMed] [Europe PMC] [Abstract]
  3. "Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells."Biochem. Biophys. Res. Commun. 188:516-523(1992) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment."Biochem. Biophys. Res. Commun. 143:431-438(1987) [PubMed] [Europe PMC] [Abstract]
  6. "Molecular basis of impaired pyruvate kinase isozyme conversion in erythroid cells: a single amino acid substitution near the active site and decreased mRNA content of the R-type PK."Biochem. Biophys. Res. Commun. 192:46-52(1993) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in pyruvate kinase."Hum. Mutat. 7:1-6(1996) [PubMed] [Europe PMC] [Abstract]
  8. "Hematologically important mutations: red cell pyruvate kinase."Blood Cells Mol. Dis. 22:85-89(1996) [PubMed] [Europe PMC] [Abstract]
  9. "Hematologically important mutations: red cell pyruvate kinase (1st update)."Blood Cells Mol. Dis. 22:259-264(1996) [PubMed] [Europe PMC] [Abstract]
  10. "Hematologically important mutations: red cell pyruvate kinase (2nd update)."Blood Cells Mol. Dis. 24:273-279(1998) [PubMed] [Europe PMC] [Abstract]
  11. "Hematologically important mutations: red cell pyruvate kinase (third update)."Blood Cells Mol. Dis. 26:47-53(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Structure and function of human erythrocyte pyruvate kinase. Molecular basis of nonspherocytic hemolytic anemia."J. Biol. Chem. 277:23807-23814(2002) [PubMed] [Europe PMC] [Abstract]
  15. "Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency."Blood 77:1871-1875(1991) [PubMed] [Europe PMC] [Abstract]
  16. "Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia."Blood 79:1347-1350(1992) [PubMed] [Europe PMC] [Abstract]
  17. "Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia."Blood 81:2439-2441(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia."Proc. Natl. Acad. Sci. U.S.A. 90:4324-4327(1993) [PubMed] [Europe PMC] [Abstract]
  19. "Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish."Blood 83:2311-2316(1994) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia."Blood 83:2817-2822(1994) [PubMed] [Europe PMC] [Abstract]
  21. "Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia."J. Clin. Invest. 95:1702-1709(1995) [PubMed] [Europe PMC] [Abstract]
  22. "Study of the molecular defects in pyruvate kinase (PK) deficient patients affected by hereditary nonspherocytic hemolytic anemia (HNHA)."J. Invest. Med. 43:341A-341A(1995)
  23. "G-to-T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP."Hum. Mutat. 9:282-285(1997) [PubMed] [Europe PMC] [Abstract]
  24. "Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients."Br. J. Haematol. 103:377-382(1998) [PubMed] [Europe PMC] [Abstract]
  25. "A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha-2 globin gene variant (Hb Conakry)."Br. J. Haematol. 103:950-956(1998) [PubMed] [Europe PMC] [Abstract]
  26. "Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy."Hum. Mutat. 11:127-134(1998) [PubMed] [Europe PMC] [Abstract]
  27. "Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients."Br. J. Haematol. 113:43-48(2001) [PubMed] [Europe PMC] [Abstract]
  28. "Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK."Hum. Mutat. 30:446-453(2009) [PubMed] [Europe PMC] [Abstract]
  29. "Exome sequencing and unrelated findings in the context of complex disease research: ethical and clinical implications." Discov. Med. 12:41-55(2011) [PubMed] [Europe PMC] [Abstract]