GeneID: 375


Common Name: PKLR Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_011677.1 (PKLR)
HUGO Symbol: PKLR Full Name: pyruvate kinase L/R
Exons: 11 Introns: 10

The PKLR gene encodes pyruvate kinase, a glycolytic enzyme that catalyzes the transphosphorylation from phosphoenolpyruvate (PEP) to ADP, yielding pyruvate and ATP. It is the last and rate-limiting step of glycolytic pathway. The PKLR gene codes for four isozymes; L is the main form in liver, R is found in red cells, M1 is the main form in muscle, heart and brain, and M2 is found in early foetal tissues. Pyruvate kinase deficiency (PKD) is the most frequent red blood cell enzyme abnormality of the glycolytic pathway and the most common cause of hereditary nonspherocytic haemolytic anaemia. Of particular relevance to sickle cell disease (SCD), a reduction in pyruvate kinase activity leads to accumulation of the upstream enzyme substrates, including 2,3-diphospho-glycerate (2,3-DPG) which decreases oxygen affinity, favoring polymerization of deoxy-HbS. In addition, increased 2,3-DPG concentration decreases intracellular pH in red blood cells which further promotes HbS polymerization. Drug interventions that increase pyruvate kinase activity, thereby lowering 2,3-DPG levels, are explored as therapeutic options to SCD.

Synonyms: PK1 , PKL , RPK , PKRL


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. Eaton WA, Bunn HF, Treating sickle cell disease by targeting HbS polymerization., Blood, 129(20), 2719-2726, 2017 PubMed
  2. Xu JZ, Thein SL, The carrier state for sickle cell disease is not completely harmless., Haematologica, 104(6), 1106-1111, 2019 PubMed
Created on 2020-05-07 15:35:21, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.