Purification and detailed study of two clinically different human glucose 6-phosphate dehydrogenase variants, G6PDPlymouth and G6PDMahidol: Evidence for defective protein folding as the basis of disease

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Why is it important?

Clinical diagnosis of enzyme deficiency does not reveal if there is a normal amount of a less active enzyme or much less of a fully active enzyme. These two clinical G6PDs, mutated at the same residue, were over-expressed and purified (with some difficulty). The pure mutant enzymes were catalytically competent but structurally unstable.