Immunochemical studies on phosphoglycerate kinase deficiency.
Antisera to normal erythrocyte and skeletal muscle PGK, raised in rabbits, were shown to cross-react with extracts from normal tissues and with extracts from a subject with PGK deficiency. Radial immunodiffusion, using the antisera raised against normal human PGK, was used to determine the amount of cross-reacting PGK protein present in extracts of several tissues from an affected subject. For all tissues tested, activity was only a small percentage of the PGK protein concentration. In particular, evidence for normal levels of protein in erythrocytes and myocardium was obtained. The results indicate that the deficiency is due to a structural mutation of the enzyme.
D003429:Cross Reactions; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007120:Immunochemistry; D005779:Immunodiffusion; D007122:Immunoelectrophoresis; D008297:Male; D009132:Muscles / Q000201:enzymology; D009154:Mutation; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics / Q000276:immunology
D010735:Phosphoglycerate Kinase