pyruvate kinase L-type (pyruvate kinase R/L, PKLR)

Function

• carbohydrate degradation; glycolysis
• pyruvate from D- glyceraldehyde 3-phosphate: step 5/5

ATP + pyruvate = ADP + phosphoenolpyruvate

Cofactor: Mg+2, K+

Structure

• homotetramer
• belongs to the pyruvate kinase family

Alternative splicing

• named isoforms=2
• 2 isoforms liver (L) & red cell (R) from alternative splicing

Pathology

• defects in PKLR are the cause of
  • pyruvate kinase hyperactivity
  • chronic nonspherocytic hemolytic anemia

Notes

• L & R isoforms from same gene, by alternative splicing

More general terms

• pyruvate kinase
• PEST protein

Database

• UniProt: http://www.uniprot.org/uniprot/P30613.html
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:5313
• OMIM: https://mirror.omim.org/entry/102900
• OMIM: https://mirror.omim.org/entry/266200