Aliases for G6PD Gene
External Ids for G6PD Gene
Previous GeneCards Identifiers for G6PD Gene
This gene 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for G6PD Gene
G6PD (Glucose-6-Phosphate Dehydrogenase) is a Protein Coding gene. Diseases associated with G6PD include Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency and Malaria. Among its related pathways are Pentose Phosphate Pathway (Erythrocyte), Pharmacodynamics and Sulfation Biotransformation Reaction. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and carbohydrate binding. An important paralog of this gene is H6PD.
UniProtKB/Swiss-Prot Summary for G6PD Gene
Cytosolic glucose-6-phosphate dehydrogenase that catalyzes the first and rate-limiting step of the oxidative branch within the pentose phosphate pathway/shunt, an alternative route to glycolysis for the dissimilation of carbohydrates and a major source of reducing power and metabolic intermediates for fatty acid and nucleic acid biosynthetic processes.