A new glucose 6-phosphate dehydrogenase variant (GDTrinacria) in two unrelated families of Sicilian ancestry.
A new G6PD variant in two unrelated families of Sicilian extraction is described. It is characterized by an enzyme activity amounting to 20% of normal, by a slow electrophoretic mobility, decreased Km values for both TPN and G6P, increased utilization of substrates analogues, thermolability and biphasic pH curve. It has been named G6PD Trinacria.
D000328:Adult; D002675:Child, Preschool; D005260:Female; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000378:metabolism*; D005958:Glucosephosphates / Q000378:metabolism; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007558:Italy; D007700:Kinetics; D008297:Male; D009249:NADP / Q000378:metabolism
D005958:Glucosephosphates; D009249:NADP; D005954:Glucosephosphate Dehydrogenase