PKLR polyclonal antibody

In mammals, four different isoenzymes exist for pyruvate kinase. Based on their tissue distribution, the isoenzymes are designated L-type (for predominant expression in the liver), R-type (for predominant expression in red blood cells), M1-type (for predominant expression in muscle, brain and heart) and M2-type (for predominant expression in fetal tissues). Pyruvate kinases are responsible for catalyzing the final step in glycolysis: the conversion of phosphoenolpyruvate to pyruvate with the coinciding generation of ATP. The PKLR (pyruvate kinase, liver and RBC) gene encodes the L- and R-type isoenzymes through alternative splicing events under the control of different promoters. The R-type isoform, also known as RPK (R-type pyruvate kinase), exists as a tetramer and, when functioning improperly, can result in chronic/hereditary nonspherocytic hemolytic anemia (CNSHA/HNSHA) or pyruvate kinase hyperactivity (also called high red cell ATP syndrome). The L-type isoform, alternatively known as PKL (pyruvate kinase L-type), also exists as a tetramer and is upregulated by glucose with implications in maturity-onset diabetes of the young (MODY).