G6PD
Glucose-6-phosphate dehydrogenase
Gene Number: 2539
Location: Xq28
Key Functions: Redox balance, antioxidant defense, NADPH production, protection against oxidative stress
G6PD encodes glucose-6-phosphate dehydrogenase, the key enzyme in the pentose phosphate pathway that generates NADPH, essential for maintaining reduced glutathione and protecting cells from oxidative damage.
G6PD activity is vital for red blood cell stability, immune function, detoxification, and cellular survival under oxidative stress. Deficiency in G6PD increases the risk of hemolytic anemia, particularly after exposure to oxidative drugs, infections, or foods like fava beans.
SNP ID | Your Genotype | Alternative Alleles | Interpretation |
|---|---|---|---|
rs1050828 | No matching variant or no valid DNA data | T | No interpretation available |
rs1050829 | No matching variant or no valid DNA data | A,C | No interpretation available |
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).
rs1050829
TT – G6PD Type B (normal activity; most common) (R).
CT – G6PD A/B variant; usually benign, but can influence enzyme levels slightly (R).
CC – G6PD Type A variant; mild enzyme reduction, not usually deficient on its own (R).
Functional effect: The C allele (A+ variant) is generally benign, but when inherited together with the T allele of rs1050828 it forms the A– haplotype, the pathogenic cause of G6PD deficiency (R).
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