G6PD Active Protein

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]

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: EC 1.1.1.49; Cell development/differentiation; Oxidoreductase; Carbohydrate Metabolism - pentose phosphate pathway; Other Amino Acids Metabolism - glutathione

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; glucose 6-phosphate metabolic process; pentose-phosphate shunt, oxidative branch; cytokine production; glucose metabolic process; pathogenesis; cholesterol biosynthetic process; NADP metabolic process; response to organic cyclic substance; glutathione metabolic process; response to ethanol; substantia nigra development; 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