Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis
Homotetramer
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
An autosomal recessive disorder characterized by a variable degree of chronic hemolysis and decreased red cell pyruvate kinase activity. Clinical manifestations range from fatal anemia at birth to a fully compensated hemolysis without apparent anemia.
No mutation information available.
Genes with an experimentally identified or computationally predicted synthetic-lethal relationship to PKLR, aggregated across our SSL data sources. Click any partner node to view that gene’s page.
Nodes and edges are coloured by the SSL data source. Partners appearing in more than one source are shown in grey.
Total Trials Found: 3
| NCT ID | Condition | Brief Title | Phase | Status |
|---|---|---|---|---|
| NCT06422351 | Pyruvate Kinase Deficiency | Clinical Trial to Evaluate the Efficacy of Gene Therapy for Pyruvate Kinase Deficiency | PHASE2 | SUSPENDED |
| NCT04105166 | Pyruvate Kinase Deficiency | Gene Therapy for Pyruvate Kinase Deficiency (PKD) | PHASE1 | COMPLETED |
| NCT03685721 | Sickle Cell, PKLR Variants, Adenosine Triphosphate Activities | Genotype -Phenotype Correlation of PKLR Variants With Pyruvate Kinase, 2,3-Diphosphglycerate and Adenosine Triphosphate Activities in Red Blood Cells of People With Sickle Cell Disease | N/A | RECRUITING |