Entrez gene ID | | 2539 |
Official gene symbol | | G6PD |
Full name | | glucose-6-phosphate dehydrogenase |
Aliases | | ,G6PD1, |
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] |
Location | | Chromosome: X Locus: Xq28 |
Gene position | | 153775787 - 153759606 Map Viewer |
Gene orientation | | minus |
Gene size | | 16182 bp |
Gene sequence |
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OMIM ID | | 305900 |
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