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G6PD glucose-6-phosphate dehydrogenase. 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 splice variant isoforms have been described. The long isoform is found in lymphoblasts, granulocytes and sperm. Note: This description may include information from UniProtKB.
Protein type: Carbohydrate Metabolism - pentose phosphate pathway; Cell development/differentiation; EC; Other Amino Acids Metabolism - glutathione; Oxidoreductase
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: cytoplasm; cytosol; internal side of plasma membrane; membrane
Molecular Function: glucose binding; glucose-6-phosphate dehydrogenase activity; identical protein binding; NADP binding; protein binding; protein homodimerization activity
Biological Process: cholesterol biosynthetic process; erythrocyte maturation; glucose 6-phosphate metabolic process; glutathione metabolic process; lipid metabolic process; NADP metabolic process; NADPH regeneration; pentose biosynthetic process; pentose-phosphate shunt; pentose-phosphate shunt, oxidative branch; ribose phosphate biosynthetic process; substantia nigra development
Disease: Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency; Favism, Susceptibility To; Malaria, Susceptibility To
Reference #:  P11413 (UniProtKB)
Alt. Names/Synonyms: G6PD; G6PD1; Glucose-6-phosphate 1-dehydrogenase; glucose-6-phosphate dehydrogenase; glucose-6-phosphate dehydrogenase, G6PD
Gene Symbols: G6PD
Molecular weight: 59,257 Da
Basal Isoelectric point: 6.39  Predict pI for various phosphorylation states
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