PKLR est un gène codé par le symbole PKLR. Communément appelé aussi: Pyruvate kinase Pyruvate kinase 1; Pyruvate kinase isozymes L/R; R-type/L-type pyruvate kinase; Red cell/liver pyruvate kinase; PK1; PKL. PKLR a une masse de 61.83kDa, une longueur d'acide aminé de 574, et est impliqué dans les maladies: Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells.
Nous proposons 6 des anticorps contre PKLR, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Plays a key role in glycolysis.
Résumé 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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the pyruvate kinase family.
