InterPro domain: IPR001282

Glucose-6-phosphate dehydrogenase ( 1.1.1.49 ) (G6PDH) is a ubiquitous protein, present in bacteria and all eukaryotic cell types [ 1 ]. The enzyme catalyses the the first step in the pentose pathway, i.e. the conversion of glucose-6-phosphate to gluconolactone 6-phosphate in the presence of NADP, producing NADPH. The ubiquitous expression of the enzyme gives it a major role in the production of NADPH for the many NADPH-mediated reductive processes in all cells, and is critical for NADPH homeostasis and redox regulation [ 2 ]. Deficiency of G6PDH is a common genetic abnormality affecting millions of people worldwide. Many sequence variants, most caused by single point mutations, are known, exhibiting a wide variety of phenotypes with the distinctive one being chronic and drug- or food-induced hemolytic anemia, attributed to the inability to produce NADPH and withstand harmful oxidants in erythrocyte cells [ 3 , 3 ].

1. Nucleotide sequence of the Drosophila glucose-6-phosphate dehydrogenase gene and comparison with the homologous human gene. Gene 63, 261-75
2. Regulation of G6PD acetylation by SIRT2 and KAT9 modulates NADPH homeostasis and cell survival during oxidative stress. EMBO J 33, 1304-20
3. Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent. J Pediatr Hematol Oncol 37, e497-9