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.
Protein type: Oxidoreductase; EC 1.1.1.49; Other Amino Acids Metabolism - glutathione; Carbohydrate Metabolism - pentose phosphate pathway; Cell development/differentiation
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: centrosome; internal side of plasma membrane; intracellular membrane-bound organelle; membrane; cytoplasm; microtubule organizing center; nucleus; cytosol
Molecular Function: identical protein binding; protein binding; glucose-6-phosphate dehydrogenase activity; protein homodimerization activity; NADP binding; glucose binding
Biological Process: NADPH regeneration; response to food; pentose-phosphate shunt; erythrocyte maturation; ribose phosphate biosynthetic process; pentose-phosphate shunt, oxidative branch; glucose 6-phosphate metabolic process; glucose metabolic process; cytokine production; pathogenesis; cholesterol biosynthetic process; NADP metabolic process; response to organic cyclic substance; response to ethanol; substantia nigra development; glutathione metabolic process; carbohydrate metabolic process; regulation of neuron apoptosis; lipid metabolic process; pentose biosynthetic process
Disease: Favism, Susceptibility To; Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency; Malaria, Susceptibility To
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