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: Carbohydrate Metabolism - pentose phosphate pathway; EC 1.1.1.49; Other Amino Acids Metabolism - glutathione; Oxidoreductase; Cell development/differentiation
Cellular Component: centrosome; internal side of plasma membrane; intracellular membrane-bound organelle; membrane; cytoplasm; microtubule organizing center; nucleus; cytosol
Molecular Function: identical protein binding; glucose-6-phosphate dehydrogenase activity; protein homodimerization activity; oxidoreductase activity; NADP binding; carbohydrate binding; glucose binding
Biological Process: NADPH regeneration; pentose-phosphate shunt; erythrocyte development; interleukin-12 production; erythrocyte maturation; ribose phosphate biosynthetic process; pentose-phosphate shunt, oxidative branch; glucose 6-phosphate metabolic process; cytokine production; glucose metabolic process; regulation of multicellular organism growth; NADP biosynthetic process; cholesterol biosynthetic process; NADP metabolic process; angiotensin mediated vasodilation involved in regulation of systemic arterial blood pressure; response to ethanol; glutathione metabolic process; angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure; carbohydrate metabolic process; regulation of neuron apoptosis; interleukin-10 production; response to oxidative stress; pentose biosynthetic process
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