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 |
|---|---|---|---|
| RS782170731 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782315044 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782317415 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782487723 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782514319 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS782608284 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS797043472 | Health Risk | Likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1282078643 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS137852316 | Health Risk | Pathogenic | G6PD PORTICI, G6PD NASHVILLE, G6PD ANAHEIM |
| RS137852321 | Health Risk | Pathogenic | G6PD BEVERLY HILLS, Anemia, nonspherocytic hemolytic |
| RS137852322 | Health Risk | Pathogenic | G6PD TOMAH, Anemia, nonspherocytic hemolytic |
| RS137852333 | Health Risk | Pathogenic | G6PD IERAPETRA, Anemia, nonspherocytic hemolytic |
| RS137852334 | Health Risk | Pathogenic | G6PD GUADALAJARA, Anemia, nonspherocytic hemolytic |
| RS137852343 | Health Risk | Pathogenic | G6PD NANKANG, Anemia, nonspherocytic hemolytic |
| RS1557229670 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229685 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557229916 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557230040 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557230626 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1557233915 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1603411177 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS1603411214 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS200111236 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2070346743 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2070350009 | Health Risk | Pathogenic | G6PD VARNSDORF, Anemia, nonspherocytic hemolytic |
| RS2070350038 | Health Risk | Pathogenic | G6PD ZURICH, Anemia, nonspherocytic hemolytic |
| RS2070352108 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2070404412 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2148328873 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2148328905 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523260651 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523261744 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523261999 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262389 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262545 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262550 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262563 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262593 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262775 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262863 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262871 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523262948 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523263185 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523263733 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523264036 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523265489 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523266771 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523267993 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523268094 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |
| RS2523268426 | Health Risk | Pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency |