Glucose 6 Phosphate Dehydrogenase (G6PD)

Glucose-6-phosphate 1-dehydrogenase

SPN	W096
HGNC	4057
MGI	105979
PubMed	7949118
RGD	2645
UniProt	P11413
Wiki	G6PD

Glucose-6-phosphate dehydrogenase (G6PD) is a cytosolic enzyme in the pentose phosphate pathway, a metabolic pathway that supplies reducing energy to cells by maintaining the level of the co-enzyme nicotinamide adenine dinucleotide phosphate (NADPH). The NADPH in turn maintains the level of glutathione in these cells that helps protect the red blood cells against oxidative damage. Of greater quantitative importance is the production of NADPH for tissues actively engaged in biosynthesis of fatty acids and/or isoprenoids, such as the liver, mammary glands, adipose tissue, and the adrenal glands.G6PD is widely distributed in many species from bacteria to humans. In higher plants, several isoforms of G6PDH have been reported, which are localized in the cytosol, the plastidic stroma, and peroxisomes.

Reference

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"Two point mutations are responsible for G6PD polymorphism in Sardinia."
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Blood 80:255-256(1992) [PubMed] [Europe PMC] [Abstract]

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"A novel C to T substitution at nucleotide 1360 of cDNA which abolishes a natural Hha I site accounts for a new G6PD deficiency gene in Chinese."
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"A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia."
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"Multiple glucose 6-phosphate dehydrogenase-deficient variants correlate with malaria endemicity in the Vanuatu archipelago (southwestern Pacific)."
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"A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India."
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"New glucose-6-phosphate dehydrogenase mutations associated with chronic anemia."
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"G6PD Mount Sinai: a new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)."
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"A new glucose 6 phosphate dehydrogenase variant, G6PD Sinnai (34 G->T)."
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Science 326:1546-1549(2009) [PubMed] [Europe PMC] [Abstract]