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