G6PD Chromosome X
Glucose-6-phosphate dehydrogenase
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What This Gene Does
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]
Associated Conditions (97)
Anemia
nonspherocytic hemolytic
due to G6PD deficiency
G6PD deficiency
G6PD A+
Malaria
susceptibility to
Inborn genetic diseases
Glomerulopathy with fibronectin deposits 2
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
G6PD ILESHA
G6PD METAPONTO
G6PD MEXICO CITY
G6PD PAWNEE
G6PD SUNDERLAND
G6PD MAHIDOL-LIKE
G6PD SPLIT
+77 more conditions
Key Variants
RS1000937138
Conflicting classifications of pathogenicity
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Health Risk
RS1020037412
Conflicting classifications of pathogenicity
G6PD deficiency, Anemia, nonspherocytic hemolytic
Health Risk
RS1028993341
Conflicting classifications of pathogenicity
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
Health Risk
RS1034742794
Conflicting classifications of pathogenicity
G6PD deficiency, G6PD deficiency
Health Risk
RS1050829
Conflicting classifications of pathogenicity
G6PD A+, Anemia, nonspherocytic hemolytic
Health Risk
RS137852313
Conflicting classifications of pathogenicity
G6PD ILESHA, Anemia, nonspherocytic hemolytic
Health Risk
RS137852315
Conflicting classifications of pathogenicity
G6PD METAPONTO, Anemia, nonspherocytic hemolytic
Health Risk
RS137852328
Conflicting classifications of pathogenicity
G6PD deficiency, G6PD MEXICO CITY, G6PD deficiency
Health Risk
RS137852337
Conflicting classifications of pathogenicity
G6PD PAWNEE, Anemia, nonspherocytic hemolytic
Health Risk
RS137852338
Conflicting classifications of pathogenicity
G6PD SUNDERLAND, Anemia, nonspherocytic hemolytic
Health Risk
RS137852342
Conflicting classifications of pathogenicity
G6PD MAHIDOL-LIKE, Anemia, nonspherocytic hemolytic
Health Risk
RS137852348
Conflicting classifications of pathogenicity
G6PD SPLIT, Anemia, nonspherocytic hemolytic
Health Risk
All Variants (248)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2523271379 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523273296 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523309030 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS281860640 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS398123546 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS5030869 | Health Risk | Pathogenic | G6PD CHATHAM, Anemia, nonspherocytic hemolytic |
| RS72554664 | Health Risk | Pathogenic | G6PD KAIPING, G6PD DHON, G6PD ANANT |
| RS781865768 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782315572 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782322505 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1050828 | Health Risk | Pathogenic/Likely pathogenic | G6PD ASAHI, Anemia, nonspherocytic hemolytic |
| RS137852314 | Health Risk | Pathogenic/Likely pathogenic | G6PD MAHIDOL, Anemia, nonspherocytic hemolytic |
| RS137852317 | Health Risk | Pathogenic/Likely pathogenic | G6PD SANTIAGO DE CUBA, Anemia, nonspherocytic hemolytic |
| RS137852320 | Health Risk | Pathogenic/Likely pathogenic | G6PD SPRINGFIELD, G6PD WALTER REED, G6PD IOWA CITY |
| RS137852323 | Health Risk | Pathogenic/Likely pathogenic | G6PD RIVERSIDE, Anemia, nonspherocytic hemolytic |
| RS137852325 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS137852326 | Health Risk | Pathogenic/Likely pathogenic | G6PD GASTONIA, G6PD MARION, G6PD MINNESOTA |
| RS137852327 | Health Risk | Pathogenic/Likely pathogenic | G6PD VIANGCHAN, G6PD JAMMU, Anemia |
| RS137852329 | Health Risk | Pathogenic/Likely pathogenic | G6PD LOMA LINDA, Anemia, nonspherocytic hemolytic |
| RS137852331 | Health Risk | Pathogenic/Likely pathogenic | G6PD TAIWAN-HAKKA 2, Anemia, nonspherocytic hemolytic |
| RS137852332 | Health Risk | Pathogenic/Likely pathogenic | G6PD SANTIAGO, Anemia, nonspherocytic hemolytic |
| RS137852339 | Health Risk | Pathogenic/Likely pathogenic | G6PD KERALA-KALYAN, G6PD KERALA, G6PD KALYAN |
| RS137852340 | Health Risk | Pathogenic/Likely pathogenic | G6PD GAOHE, Anemia, nonspherocytic hemolytic |
| RS137852341 | Health Risk | Pathogenic/Likely pathogenic | G6PD QUING YUAN, Anemia, nonspherocytic hemolytic |
| RS137852349 | Health Risk | Pathogenic/Likely pathogenic | G6PD NAMORU, Anemia, nonspherocytic hemolytic |
| RS138687036 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229502 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229572 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229599 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229683 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229736 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Anemia, nonspherocytic hemolytic |
| RS1557229854 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557230213 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2148328852 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262484 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523268414 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523270765 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS387906468 | Health Risk | Pathogenic/Likely pathogenic | G6PD PUERTO LIMON, Anemia, nonspherocytic hemolytic |
| RS5030868 | Health Risk | Pathogenic/Likely pathogenic | G6PD MEDITERRANEAN, G6PD CAGLIARI, G6PD SASSARI |
| RS5030872 | Health Risk | Pathogenic/Likely pathogenic | G6PD MALAGA, Anemia, nonspherocytic hemolytic |
| RS587776730 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS74575103 | Health Risk | Pathogenic/Likely pathogenic | G6PD deficiency, Anemia, nonspherocytic hemolytic |
| RS76645461 | Health Risk | Pathogenic/Likely pathogenic | G6PD AURES, Anemia, nonspherocytic hemolytic |
| RS76723693 | Health Risk | Pathogenic/Likely pathogenic | G6PD deficiency, Anemia, nonspherocytic hemolytic |
| RS782090947 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS78365220 | Health Risk | Pathogenic/Likely pathogenic | G6PD deficiency, Anemia, nonspherocytic hemolytic |
| RS78478128 | Health Risk | Pathogenic/Likely pathogenic | G6PD ORISSA, Anemia, nonspherocytic hemolytic |
| RS979416826 | Health Risk | Pathogenic/Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |