Glucose 6-phosphate dehydrogenase mutations causing enzyme deficiency in a model of the tertiary structure of the human enzyme

Abstract excerpt

Human glucose 6-phosphate dehydrogenase (G6PD) has a particularly large number of variants resulting from point mutations; some 60 mutations have been sequenced to date. Many variants, some polymorphic, are associated with enzyme deficiency. Certain variants have severe clinical manifestations; for such variants, the mutant enzyme almost always displays a reduced thermal stability. A homology model of human G6PD...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Diet, Metabolism, and Disease
• Share to Erythrocyte Function and Pathophysiology
• Share to Neonatal Health and Biochemistry