RecName: Full=Pyruvate kinase PKLR; AltName: Full=Pyruvate kinase 1; A - Protein

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Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population. [Ann Hematol. 2023]
Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
Dongerdiye R, Bokde M, More TA, Saptarshi A, Devendra R, Chiddarwar A, Warang P, Kedar P. Ann Hematol. 2023 May; 102(5):1029-1036. Epub 2023 Mar 9.
Genetic variants of PKLR are associated with acute pain in sickle cell disease. [Blood Adv. 2022]
Genetic variants of PKLR are associated with acute pain in sickle cell disease.
Wang X, Gardner K, Tegegn MB, Dalgard CL, Alba C, Menzel S, Patel H, Pirooznia M, Fu YP, Seifuddin FT, et al. Blood Adv. 2022 Jun 14; 6(11):3535-3540.
A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report. [J Med Case Rep. 2022]
A novel homozygous missense variant p.D339N in the PKLR gene correlates with pyruvate kinase deficiency in a Pakistani family: a case report.
Rehman AU, Rashid A, Hussain Z, Shah K. J Med Case Rep. 2022 Feb 16; 16(1):66. Epub 2022 Feb 16.

RefSeq genomic sequence
See the genomic reference sequence for the PKLR gene (NG_011677.1).
RefSeq protein isoforms
See 15 reference sequence protein isoforms for the PKLR gene.

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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Evolutionary Trace of Functional Site [Evolutionary Trace of Functio...]
Evolutionary Trace of Functional Site

RecName: Full=Pyruvate kinase PKLR; AltName: Full=Pyruvate kinase 1; AltName: Fu...
RecName: Full=Pyruvate kinase PKLR; AltName: Full=Pyruvate kinase 1; AltName: Full=Pyruvate kinase isozymes L/R; AltName: Full=R-type/L-type pyruvate kinase; AltName: Full=Red cell/liver pyruvate kinase
gi|8247933|sp|P30613.2|KPYR_HUMAN

Protein
Normetanephrine
Normetanephrine
A methylated metabolite of norepinephrine that is excreted in the urine and found in certain tissues. It is a marker for tumors.<br/>Year introduced: 1966 (1963)

MeSH
Ethanolamine
Ethanolamine
A viscous, hygroscopic amino alcohol with an ammoniacal odor. It is widely distributed in biological tissue and is a component of lecithin. It is used as a surfactant, fluorim...<br/>Year introduced: 1998

MeSH
Budesonide, Formoterol Fumarate Drug Combination
Budesonide, Formoterol Fumarate Drug Combination
A pharmaceutical preparation of budesonide and formoterol fumarate that is used as an ANTI-ASTHMATIC AGENT and for the treatment of CHRONIC OBSTRUCTIVE PULMONARY DISEASE....<br/>Year introduced: 2016 (2002)

MeSH
F2rl1 F2R like trypsin receptor 1 [Rattus norvegicus]
F2rl1 F2R like trypsin receptor 1 [Rattus norvegicus]
Gene ID:116677

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Protein