Glucose 6 Phosphate Dehydrogenase (G6PD) Antibody – Mouse Monoclonal

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

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: centrosome; cytoplasm; cytosol; internal side of plasma membrane; intracellular membrane-bound organelle; membrane; microtubule organizing center

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