G6PD

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]

Glucose-6-Phosphate Dehydrogenase

Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.

Cellular response to oxidative stress Source: BHF-UCL
Cholesterol biosynthetic process Source: BHF-UCL
Erythrocyte maturation Source: BHF-UCL
Glucose 6-phosphate metabolic process Source: UniProtKB
Glucose metabolic process Source: UniProtKB-KW
Glutathione metabolic process Source: BHF-UCL
Lipid metabolic process Source: BHF-UCL
NADPH regeneration Source: BHF-UCL
NADP metabolic process Source: UniProtKB
Negative regulation of cell growth involved in cardiac muscle cell development Source: Ensembl
Negative regulation of protein glutathionylation Source: BHF-UCL
Negative regulation of reactive oxygen species metabolic process Source: Ensembl
Pentose biosynthetic process Source: BHF-UCL
Pentose-phosphate shunt Source: BHF-UCL
Pentose-phosphate shunt, oxidative branch Source: BHF-UCL
Positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel Source: Ensembl
Regulation of neuron apoptotic process Source: Ensembl
Response to ethanol Source: Ensembl
Response to food Source: Ensembl
Response to iron(III) ion Source: Ensembl
Response to organic cyclic compound Source: Ensembl
Ribose phosphate biosynthetic process Source: BHF-UCL
Substantia nigra development Source: UniProtKB

Cytosol; Membrane

Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA):
The disease is caused by variants affecting the gene represented in this entry. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of NSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class-IV have near normal activity. A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life.

Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity.