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]
Subcellular localization of G6PD (and its protein):
Gene Ontology (GO) terms for G6PD:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 1200 Carbon metabolism [PATH:hsa01200] |
| 30 Pentose phosphate pathway [PATH:hsa00030] |
| 480 Glutathione metabolism [PATH:hsa00480] |
| 5230 Central carbon metabolism in cancer [PATH:hsa05230] |
| Name |
|---|
| Gene Expression |
| Generic Transcription Pathway |
| Metabolism |
| Metabolism of carbohydrates |
| Pentose phosphate pathway (hexose monophosphate shunt) |
| TP53 Regulates Metabolic Genes |
| Transcriptional Regulation by TP53 |
| Disease | Score | NofPmids | NofSnps | Source |
| Deficiency of glucose-6-phosphate dehydrogenase | 0.243440631 | 191 | 3 | BeFree_CTD_human_GAD_LHGDN |
| ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY | 0.24 | 16 | 27 | CLINVAR_UNIPROT |
| Anemia, Hemolytic | 0.144926502 | 57 | 2 | BeFree_CTD_human_GAD_LHGDN |
| Favism | 0.130705785 | 24 | 1 | BeFree_CTD_human_GAD |
| Hemolysis (disorder) | 0.129468128 | 6 | 0 | CTD_human_GAD |
| Anemia, Hemolytic, Congenital Nonspherocytic | 0.122714419 | 12 | 0 | BeFree_CTD_human |
| Chronic granulomatous disease | 0.120271442 | 2 | 0 | BeFree_CTD_human |
| Contact Dermatitis | 0.12 | 1 | 0 | CTD_human |
| Acute kidney injury | 0.12 | 3 | 0 | CTD_human |
| Phagocyte Bactericidal Dysfunction | 0.12 | 1 | 0 | CTD_human |
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