G6PD
LOCUS ID2539
GENE_SYMBOLG6PD
GENE NAMEglucose-6-phosphate dehydrogenase
SYNONYMNSG6PD1
CHROMOSOMEX
HOMOLOGENE ID37906
microRNAsNANA
GENE SUMMARY
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 DPH, 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]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. This study investigated whether SPR ameliorates nephropathy by increasing G6PD activity and reducing oxidative stress in spontaneously hypertensive diabetic rats (SHRs).21987533
Cardiovascular1. Thus G6PD may be a useful therapeutic target for treating the cardiovascular disease associated with type 2 diabetes, if second-generation drugs specifically reducing the activity of G6PD to near normal levels are developed19429815
Neuropathy1. The frequency of G6PD deficiency in patients with NAION was significantly lower than expected. suggest that G6PD-deficient patients in the Sardinian population have a significantly decreased risk of having NAION.18385045
G6PD
LOCUS ID2539
GENE_SYMBOLG6PD
GENE NAMEglucose-6-phosphate dehydrogenase
SYNONYMNSG6PD1
CHROMOSOME
HOMOLOGENE ID37906
microRNAsNANA
GENE SUMMARY
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]

OBSERVATIONS

Complication Evidence PMID
Retinopathy1. Poor glycemia levels along with increased generation of ALEs might be the major contributing biochemical derangements associated with decreased G6PD activity followed by low NADPH levels in subjects with MNPDR, thus increasing the vulnerability of erythrocytes to oxidative stress in the early course of retinopathy.27916496