A new glucose-6-phosphate dehydrogenase variant (G-6-PD Kalyan) found in a Koli family.
A new Indian variant of erythrocytic glucose-6-phosphate dehydrogenase (G-6-PD) has been detected in a Koli male subject during population genetic studies. The enzyme variant is characterized by mild enzyme deficiency, slow electrophoretic mobility, low Km for G-6-P, increased utilization of substrate analogues, heat instability and a normal pH optimum curve. From these results this was considered to be a new variant and was designated G-6-PD Kalyan. The family history and routine hematological studies did not reveal any evidence that the G-6-PD Kalyan is associated with any hematological abnormalities or clinical symptoms.
D004592:Electrophoresis, Starch Gel; D004912:Erythrocytes / Q000201:enzymology; D005006:Ethnicity; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D006801:Humans; D007194:India; D007527:Isoenzymes / Q000097:blood / Q000235:genetics*; D007700:Kinetics; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic
D007527:Isoenzymes; D005954:Glucosephosphate Dehydrogenase