PKLR

Pyruvate kinase, liver and RBC, also known as PKLR, is a human gene.cite web | title = Entrez Gene: PKLR pyruvate kinase, liver and RBC| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5313| accessdate = ]

PBB_Summary
section_title =
summary_text = The protein encoded by this gene is a pyruvate kinase that catalyzes the production of phohsphoenolpyruvate from pyruvate and ATP. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Alternatively spliced transcript variants encoding distinct isoforms have been described.cite web | title = Entrez Gene: PKLR pyruvate kinase, liver and RBC| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5313| accessdate = ]

ee also

* Pyruvate kinase

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Beutler E, Baronciani L |title=Mutations in pyruvate kinase. |journal=Hum. Mutat. |volume=7 |issue= 1 |pages= 1–6 |year= 1996 |pmid= 8664896 |doi= 10.1002/(SICI)1098-1004(1996)7:1<1::AID-HUMU1>3.0.CO;2-H
*cite journal | author=Baronciani L, Bianchi P, Zanella A |title=Hematologically important mutations: red cell pyruvate kinase (2nd update). |journal=Blood Cells Mol. Dis. |volume=24 |issue= 3 |pages= 273–9 |year= 1999 |pmid= 10087985 |doi= 10.1006/bcmd.1998.0193
*cite journal | author=Zanella A, Fermo E, Bianchi P, "et al." |title=Pyruvate kinase deficiency: the genotype-phenotype association. |journal=Blood Rev. |volume=21 |issue= 4 |pages= 217–31 |year= 2007 |pmid= 17360088 |doi= 10.1016/j.blre.2007.01.001
*cite journal | author=Kanno H, Fujii H, Miwa S |title=Structural analysis of human pyruvate kinase L-gene and identification of the promoter activity in erythroid cells. |journal=Biochem. Biophys. Res. Commun. |volume=188 |issue= 2 |pages= 516–23 |year= 1992 |pmid= 1445295 |doi=
*cite journal | author=Kanno H, Fujii H, Hirono A, "et al." |title=Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with hereditary hemolytic anemia. |journal=Blood |volume=79 |issue= 5 |pages= 1347–50 |year= 1992 |pmid= 1536957 |doi=
*cite journal | author=Dawson SJ, White LA |title=Treatment of Haemophilus aphrophilus endocarditis with ciprofloxacin. |journal=J. Infect. |volume=24 |issue= 3 |pages= 317–20 |year= 1992 |pmid= 1602151 |doi=
*cite journal | author=Kanno H, Fujii H, Hirono A, Miwa S |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=88 |issue= 18 |pages= 8218–21 |year= 1991 |pmid= 1896471 |doi=
*cite journal | author=Neubauer B, Lakomek M, Winkler H, "et al." |title=Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency. |journal=Blood |volume=77 |issue= 9 |pages= 1871–5 |year= 1991 |pmid= 2018831 |doi=
*cite journal | author=Tani K, Fujii H, Nagata S, Miwa S |title=Human liver type pyruvate kinase: complete amino acid sequence and the expression in mammalian cells. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=85 |issue= 6 |pages= 1792–5 |year= 1988 |pmid= 3126495 |doi=
*cite journal | author=Satoh H, Tani K, Yoshida MC, "et al." |title=The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21. |journal=Cytogenet. Cell Genet. |volume=47 |issue= 3 |pages= 132–3 |year= 1988 |pmid= 3378452 |doi=
*cite journal | author=Tani K, Fujii H, Tsutsumi H, "et al." |title=Human liver type pyruvate kinase: cDNA cloning and chromosomal assignment. |journal=Biochem. Biophys. Res. Commun. |volume=143 |issue= 2 |pages= 431–8 |year= 1987 |pmid= 3566732 |doi=
*cite journal | author=Baronciani L, Beutler E |title=Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia. |journal=J. Clin. Invest. |volume=95 |issue= 4 |pages= 1702–9 |year= 1995 |pmid= 7706479 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=
*cite journal | author=Kanno H, Ballas SK, Miwa S, "et al." |title=Molecular abnormality of erythrocyte pyruvate kinase deficiency in the Amish. |journal=Blood |volume=83 |issue= 8 |pages= 2311–6 |year= 1994 |pmid= 8161798 |doi=
*cite journal | author=Lenzner C, Nürnberg P, Thiele BJ, "et al." |title=Mutations in the pyruvate kinase L gene in patients with hereditary hemolytic anemia. |journal=Blood |volume=83 |issue= 10 |pages= 2817–22 |year= 1994 |pmid= 8180378 |doi=
*cite journal | author=Kanno H, Fujii H, Tsujino G, Miwa S |title=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. |journal=Biochem. Biophys. Res. Commun. |volume=192 |issue= 1 |pages= 46–52 |year= 1993 |pmid= 8476433 |doi= 10.1006/bbrc.1993.1379
*cite journal | author=Kanno H, Fujii H, Miwa S |title=Low substrate affinity of pyruvate kinase variant (PK Sapporo) caused by a single amino acid substitution (426 Arg-->Gln) associated with hereditary hemolytic anemia. |journal=Blood |volume=81 |issue= 9 |pages= 2439–41 |year= 1993 |pmid= 8481523 |doi=
*cite journal | author=Baronciani L, Beutler E |title=Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=90 |issue= 9 |pages= 4324–7 |year= 1993 |pmid= 8483951 |doi=
*cite journal | author=Baronciani L, Bianchi P, Zanella A |title=Hematologically important mutations: red cell pyruvate kinase. |journal=Blood Cells Mol. Dis. |volume=22 |issue= 1 |pages= 85–9 |year= 1996 |pmid= 8807089 |doi= 10.1006/bcmd.1996.0012

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