G6PD encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia.
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Protein Aliases: G6PD; G6PD1; Glucose-6-phosphate 1-dehydrogenase; glucose-6-phosphate dehydrogenase
Gene Aliases: G6PD; G6PD1
UniProt ID: (Human) P11413
Entrez Gene ID: (Human) 2539