G6PD
Glucose-6-phosphate dehydrogenase
Gene Number: 2539
Location: Xq28
Key Functions: Redox balance, antioxidant defense, NADPH generation, protection against oxidative stress, cellular detoxification
G6PD (glucose-6-phosphate dehydrogenase) encodes the rate-limiting enzyme of the pentose phosphate pathway (PPP), a crucial metabolic route parallel to glycolysis. Its principal role is to generate nicotinamide adenine dinucleotide phosphate (NADPH), the reducing power required to maintain the redox balance of cells and to preserve glutathione in its reduced form (GSH). This process is fundamental for protecting cellular components—especially lipids, proteins, and DNA—from oxidative damage induced by reactive oxygen species (ROS).
G6PD deficiency is the most common enzyme deficiency worldwide, affecting over 400 million individuals [R].
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1050828 | Analyze your DNA to see your genotype | T | Analyze your DNA to see a personalized result. |
rs1050828
CC – Normal enzyme activity; no deficiency risk (R).
CT – Carrier of G6PD deficiency; enzyme activity reduced; HbA1c may be underestimated in diabetes diagnosis (R).
TT – G6PD deficiency; significantly reduced enzyme activity; risk of hemolytic anemia and HbA1c misclassification (R).
Functional effect: The T allele defines the A– haplotype when combined with rs1050829, leading to 10–60% reduced enzyme activity. This can distort HbA1c values and increase hemolysis risk under oxidative stress (R).
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