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: Oxidoreductase; Carbohydrate Metabolism - pentose phosphate pathway; EC 184.108.40.206; Cell development/differentiation; Other Amino Acids Metabolism - glutathione
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: 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; cholesterol biosynthetic process; response to organic cyclic substance; NADP metabolic process; response to ethanol; glutathione metabolic process; substantia nigra development; regulation of neuron apoptosis; carbohydrate metabolic process; 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.