PKLR è un gene codificato dal simbolo PKLR. Comunemente indicato anche come: Pyruvate kinase Pyruvate kinase 1; Pyruvate kinase isozymes L/R; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase; PK1; PKL. PKLR ha una massa di 61.83kDa, una lunghezza di amminoacidi di 574, ed è implicato nella malattia: Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells.
Offriamo 6 anticorpi contro PKLR, allevati nel Coniglio e Topo, che sono adatti per WB, IHC e ELISA con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Plays a key role in glycolysis.
Sommario di Entrez
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene.
Coinvolgimento nella malattia
Pyruvate kinase hyperactivity: Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Pyruvate kinase deficiency of red cells: A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia.
Somiglianze di sequenza
Belongs to the pyruvate kinase family.
