Phosphoglycerate kinase abnormalities: functional, structural and genomic aspects.

Phosphoglycerate kinase (PGK) deficiency is associated with hemolytic anemia and mental disorders in man. Complete amino acid sequence of normal human PGK was determined and its three-dimensional structure could be deduced from that of horse and yeast enzymes. Specific amino acid substitutions of several PGK variants associated with clinical problems were elucidated, and their functional abnormalities were correlated to their structural abnormalities. Full-length cDNA clones for normal human PGK were isolated and it is possible to examine PGK variants at the genomic level.