A new variant of galactokinase.
A new variant of human galactokinase activity is described. This enzyme shows reduced catalytic activity both in red and white blood cells, lower Km for ATPMg2-, and increased in vivo instability when compared to the normal enzyme. Thermostability and pH optimum are not modified. We have labelled this enzyme the Urbino variant and have suggested the procedure to distinguish it from the allelic form (GALKG) responsible for galactosemia in the homozygous state.
D000483:Alleles; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005686:Galactokinase / Q000235:genetics* / Q000378:metabolism; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree
D005686:Galactokinase