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. Note: This description may include information from UniProtKB.
Protein type: Other Amino Acids Metabolism - glutathione; Oxidoreductase; Cell development/differentiation; EC 126.96.36.199; Carbohydrate Metabolism - pentose phosphate pathway
Chromosomal Location of Human Ortholog: Xq28
Cellular Component: internal side of plasma membrane; membrane; cytoplasm; nucleus; cytosol
Molecular Function: protein binding; glucose-6-phosphate dehydrogenase activity; protein homodimerization activity; NADP binding; glucose binding
Biological Process: response to food; NADPH regeneration; pentose-phosphate shunt; erythrocyte maturation; ribose phosphate biosynthetic process; pentose-phosphate shunt, oxidative branch; glucose 6-phosphate metabolic process; cytokine production; NADP metabolic process; response to organic cyclic substance; cholesterol biosynthetic process; substantia nigra development; response to ethanol; glutathione metabolic process; carbohydrate metabolic process; regulation of neuron apoptosis; lipid metabolic process; pentose biosynthetic process
SS: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.