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G6PD gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

G6PD gene

The G6PD gene provides instructions for making the enzyme glucose-6-phosphate dehydrogenase, which protects red blood cells from damage and helps process carbohydrates.

Normal Function

The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme, which is active in virtually all types of cells, is involved in the normal processing of carbohydrates. It plays a critical role in red blood cells, which carry oxygen from the lungs to tissues throughout the body, by helping protect them from damage and premature destruction.

Glucose-6-phosphate dehydrogenase is responsible for the first step in the pentose phosphate pathway, a series of chemical reactions that convert glucose to ribose-5-phosphate. Ribose-5-phosphate is an important component of nucleotides, the building blocks of DNA and RNA. This chemical reaction produces a molecule called NADPH, which protects cells from potentially harmful molecules called reactive oxygen species. The production of NADPH by glucose-6-phosphate dehydrogenase is essential in red blood cells, which are particularly susceptible to damage by reactive oxygen species because they lack other NADPH-producing enzymes.

Health Conditions Related to Genetic Changes

Glucose-6-phosphate dehydrogenase deficiency

More than 200 variants that cause glucose-6-phosphate dehydrogenase deficiency have been identified in the G6PD gene. These variants disrupt the normal structure and function of the enzyme or reduce the amount of the enzyme produced in cells.

Without enough functional glucose-6-phosphate dehydrogenase, red blood cells are unable to protect themselves from the damaging effects of reactive oxygen species. The damaged cells are likely to rupture and break down prematurely (undergo hemolysis). Factors such as infections, certain drugs, and ingesting fava beans can increase the levels of reactive oxygen species, causing red blood cells to undergo hemolysis faster than the body can replace them. This loss of red blood cells causes the signs and symptoms of hemolytic anemia.

Other Names for This Gene

  • G6PD1
  • G6PD_HUMAN

Frequently Asked Questions

Sudden dark urine, rapid fatigue, shortness of breath, jaundice, abdominal or back pain, and a rapid drop in hemoglobin (feeling dizzy or faint). If any of these appear after exposure to a trigger, seek emergency medical attention immediately.
quantitative enzyme activity assay on a blood sample is the standard test. In newborn screening programs, a dried blood spot is analyzed; if low activity is found, a confirmatory repeat test is done. Genetic testing can identify the specific G6PD variant but is not required for diagnosis.
G6PD deficiency is X‑linked recessive. A carrier mother has a 50 % chance of passing the altered gene to each son (who would be affected) and a 50 % chance to each daughter (who would become carriers). An affected father passes the altered gene to all daughters (who become carriers) but none of his sons.
void fava beans, sulfa drugs (e.g., sulfamethoxazole, sulfonylureas), certain antimalarials (primaquine, chloroquine), some antibiotics (nitrofurantoin, dapsone), and high‑dose vitamin C or K. Always check medication labels and ask your pharmacist if a drug is safe for G6PD deficiency.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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