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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]
[中文简述(自动翻译):]  这个基因编码葡萄糖-6-磷酸脱氢酶。该蛋白质是通过其主要功能是产生NADPH,在对抗氧化剂的防御,并在还原生物合成反应的关键的电子供体的看家X连锁基因编码的胞质酶。 G6PD头儿的遗传多样性。 G6PD的许多变体,大多是从错义突变产生的,已与酶的活性的广泛范围的水平以及相关的临床症状描述。 G6PD缺乏症可引起新生儿黄疸,急性溶血,或严重的慢性非球形红细胞溶血性贫血。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2008年7月提供]
G6PD基因(以及对应的蛋白质)的细胞分布位置:
G6PD基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
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 |
Phagocyte Bactericidal Dysfunction | 0.12 | 1 | 0 | CTD_human |
FAVISM, SUSCEPTIBILITY TO | 0.12 | 0 | 3 | CLINVAR |
Acute kidney injury | 0.12 | 3 | 0 | CTD_human |
Cataract | 0.081900093 | 8 | 0 | BeFree_RGD |
Liver carcinoma | 0.080814326 | 4 | 0 | BeFree_RGD |
Cholestasis | 0.080271442 | 2 | 0 | BeFree_RGD |
Diabetic Nephropathy | 0.080271442 | 2 | 0 | BeFree_RGD |
Obesity | 0.080271442 | 2 | 0 | BeFree_RGD |
Transient Ischemic Attack | 0.08 | 1 | 0 | RGD |
Congenital Hypothyroidism | 0.08 | 1 | 0 | RGD |
Multi-infarct dementia | 0.08 | 1 | 0 | RGD |
Diabetes Mellitus, Experimental | 0.08 | 3 | 0 | RGD |
Hepatic Encephalopathy | 0.08 | 1 | 0 | RGD |
Hypercholesterolemia | 0.08 | 1 | 0 | RGD |
Hypertension, Renovascular | 0.08 | 1 | 0 | RGD |
Hypertriglyceridemia | 0.08 | 1 | 0 | RGD |
Insulin Resistance | 0.08 | 1 | 0 | RGD |
Kidney Diseases | 0.08 | 1 | 0 | RGD |
Myocardial Infarction | 0.08 | 1 | 0 | RGD |
Phenylketonurias | 0.08 | 1 | 0 | RGD |
Reperfusion Injury | 0.08 | 1 | 0 | RGD |
Porphobilinogen synthase deficiency | 0.08 | 1 | 0 | RGD |
Non-alcoholic Fatty Liver Disease | 0.08 | 1 | 0 | RGD |
Metabolic Syndrome X | 0.08 | 2 | 0 | RGD |
Drug-Induced Liver Injury | 0.08 | 1 | 0 | RGD |
Homocysteinemia | 0.08 | 1 | 0 | RGD |
Malaria | 0.027730678 | 77 | 0 | BeFree_GAD |
Hyperbilirubinemia | 0.024526915 | 33 | 0 | BeFree_GAD_LHGDN |
Malaria, Falciparum | 0.022931939 | 15 | 0 | BeFree_GAD |
Anemia, Sickle Cell | 0.016992555 | 22 | 0 | BeFree_GAD |
alpha-Thalassemia | 0.013192369 | 9 | 0 | BeFree_GAD |
Anemia | 0.011996981 | 11 | 5 | BeFree_GAD_LHGDN |
Neonatal Jaundice | 0.011444166 | 19 | 0 | BeFree_GAD |
Hyperbilirubinemia, Neonatal | 0.010358398 | 15 | 0 | BeFree_GAD |
Glycogen Storage Disease Type I | 0.007101096 | 3 | 0 | GAD |
beta Thalassemia | 0.006905599 | 9 | 0 | BeFree_GAD |
Sickle Cell Trait | 0.006905599 | 10 | 0 | BeFree_GAD |
Enzymopathy | 0.006243163 | 23 | 0 | BeFree |
Chronic non-spherocytic hemolytic anemia | 0.005352893 | 11 | 1 | BeFree_GAD |
Chronic hemolytic anemia | 0.004614512 | 17 | 1 | BeFree |
Anemia, Hemolytic, Congenital | 0.00408156 | 6 | 0 | BeFree_LHGDN |
Hemoglobinopathies | 0.003995683 | 6 | 0 | BeFree_GAD |
Myeloid Leukemia, Chronic | 0.003528744 | 13 | 0 | BeFree |
Cerebrovascular accident | 0.003181358 | 3 | 1 | BeFree_GAD |
Malaria, Vivax | 0.002909916 | 3 | 0 | BeFree_GAD |
Infection | 0.00272435 | 1 | 0 | LHGDN |
Diabetes Mellitus, Insulin-Dependent | 0.002638474 | 2 | 0 | BeFree_GAD |
Elliptocytosis, Hereditary | 0.002638474 | 2 | 0 | BeFree_GAD |
Hemoglobinuria | 0.002638474 | 1 | 0 | BeFree_GAD |
Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
Encephalitis | 0.002367032 | 1 | 0 | GAD |
Hyperbilirubinemia, Hereditary | 0.002367032 | 1 | 0 | GAD |
Lymphoma, Non-Hodgkin | 0.002367032 | 1 | 0 | GAD |
Kernicterus | 0.002171535 | 8 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.002171535 | 8 | 0 | BeFree |
Thalassemia | 0.002171535 | 8 | 0 | BeFree |
leukemia | 0.001900093 | 7 | 0 | BeFree |
Gilbert Disease (disorder) | 0.001357209 | 5 | 0 | BeFree |
alpha^+^ Thalassemia | 0.001357209 | 5 | 0 | BeFree |
Cardiovascular Diseases | 0.001085767 | 4 | 1 | BeFree |
Diabetes | 0.001085767 | 4 | 0 | BeFree |
Diabetes Mellitus | 0.001085767 | 4 | 0 | BeFree |
Mental Retardation | 0.001085767 | 4 | 0 | BeFree |
Hereditary spherocytosis | 0.001085767 | 4 | 0 | BeFree |
Color blindness | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Fragile X Syndrome | 0.000814326 | 3 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
melanoma | 0.000814326 | 3 | 1 | BeFree |
Metabolic Diseases | 0.000814326 | 3 | 0 | BeFree |
Muscular Dystrophy | 0.000814326 | 3 | 0 | BeFree |
Sickle cell-beta-thalassemia | 0.000814326 | 3 | 0 | BeFree |
Anemia, severe | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Beta thalassemia trait | 0.000814326 | 3 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Bacteremia | 0.000542884 | 2 | 0 | BeFree |
Bipolar Disorder | 0.000542884 | 2 | 0 | BeFree |
Cholelithiasis | 0.000542884 | 2 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000542884 | 2 | 0 | BeFree |
Exanthema | 0.000542884 | 2 | 0 | BeFree |
Cardiac Arrest | 0.000542884 | 2 | 0 | BeFree |
Heart failure | 0.000542884 | 2 | 0 | BeFree |
Congestive heart failure | 0.000542884 | 2 | 0 | BeFree |
Hemophilia A | 0.000542884 | 2 | 0 | BeFree |
Pulmonary Hypertension | 0.000542884 | 2 | 0 | BeFree |
Leishmaniasis, Cutaneous | 0.000542884 | 2 | 0 | BeFree |
Liver neoplasms | 0.000542884 | 2 | 0 | BeFree |
Methemoglobinemia | 0.000542884 | 2 | 0 | BeFree |
Polycythemia Vera | 0.000542884 | 2 | 0 | BeFree |
Preleukemia | 0.000542884 | 2 | 0 | BeFree |
Age-related cataract | 0.000542884 | 2 | 0 | BeFree |
Thrombocythemia, Essential | 0.000542884 | 2 | 0 | BeFree |
Upper Respiratory Infections | 0.000542884 | 2 | 0 | BeFree |
Virus Diseases | 0.000542884 | 2 | 0 | BeFree |
Wiskott-Aldrich Syndrome | 0.000542884 | 2 | 0 | BeFree |
Unconjugated hyperbilirubinemia | 0.000542884 | 2 | 0 | BeFree |
Drug-induced hemolytic anemia | 0.000542884 | 2 | 0 | BeFree |
Philadelphia chromosome positive chronic myelogenous leukemia | 0.000542884 | 2 | 0 | BeFree |
Philadelphia chromosome negative chronic myelogenous leukemia | 0.000542884 | 2 | 0 | BeFree |
Congenital color blindness | 0.000542884 | 2 | 0 | BeFree |
Hematologic Neoplasms | 0.000542884 | 2 | 0 | BeFree |
Bilateral cataracts (disorder) | 0.000542884 | 2 | 0 | BeFree |
Chronic anemia | 0.000542884 | 2 | 0 | BeFree |
Carcinogenesis | 0.000542884 | 2 | 0 | BeFree |
Thalassemia trait | 0.000542884 | 2 | 0 | BeFree |
Spots on skin | 0.000542884 | 2 | 0 | BeFree |
Mental Retardation, X-Linked | 0.000542884 | 2 | 0 | BeFree |
Fabry Disease | 0.000271442 | 1 | 0 | BeFree |
Ataxia Telangiectasia | 0.000271442 | 1 | 0 | BeFree |
Cerebral Infarction | 0.000271442 | 1 | 0 | BeFree |
Hemophilia B | 0.000271442 | 1 | 0 | BeFree |
Colonic Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Diabetes Mellitus, Non-Insulin-Dependent | 0.000271442 | 1 | 0 | BeFree |
Enterovirus Infections | 0.000271442 | 1 | 0 | BeFree |
Esophageal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Gardner Syndrome | 0.000271442 | 1 | 0 | BeFree |
Hepatitis B | 0.000271442 | 1 | 0 | BeFree |
Hepatolenticular Degeneration | 0.000271442 | 1 | 0 | BeFree |
HIV Infections | 0.000271442 | 1 | 0 | BeFree |
Hyperaldosteronism | 0.000271442 | 1 | 0 | BeFree |
Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
Bloch Sulzberger syndrome | 0.000271442 | 1 | 0 | BeFree |
Infection by Leishmania braziliensis | 0.000271442 | 1 | 0 | BeFree |
Chronic Lymphocytic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Erythroblastic Leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute Megakaryocytic Leukemias | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myeloid, Chronic-Phase | 0.000271442 | 1 | 0 | BeFree |
Inborn Errors of Metabolism | 0.000271442 | 1 | 0 | BeFree |
Multiple Myeloma | 0.000271442 | 1 | 0 | BeFree |
Myopathy | 0.000271442 | 1 | 0 | BeFree |
Myeloproliferative disease | 0.000271442 | 1 | 0 | BeFree |
Neoplasm Metastasis | 0.000271442 | 1 | 0 | BeFree |
Neurofibromatosis 1 | 0.000271442 | 1 | 0 | BeFree |
Oculocerebrorenal Syndrome | 0.000271442 | 1 | 0 | BeFree |
Pancytopenia | 0.000271442 | 1 | 0 | BeFree |
Polycythemia | 0.000271442 | 1 | 0 | BeFree |
polyps | 0.000271442 | 1 | 0 | BeFree |
Priapism | 0.000271442 | 1 | 0 | BeFree |
Septicemia | 0.000271442 | 1 | 0 | BeFree |
Vitamin A Deficiency | 0.000271442 | 1 | 0 | BeFree |
Vitamin B 12 Deficiency | 0.000271442 | 1 | 0 | BeFree |
Esophageal carcinoma | 0.000271442 | 1 | 0 | BeFree |
Color Blindness, Red-Green | 0.000271442 | 1 | 0 | BeFree |
Nephrogenic Diabetes Insipidus | 0.000271442 | 1 | 0 | BeFree |
Neurofibromatoses | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Neurofibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
Red blood cell disorder | 0.000271442 | 1 | 0 | BeFree |
Premature aging syndrome | 0.000271442 | 1 | 0 | BeFree |
Sepsis | 0.000271442 | 1 | 0 | BeFree |
Multiple tumors | 0.000271442 | 1 | 0 | BeFree |
Parathyroid Adenoma | 0.000271442 | 1 | 0 | BeFree |
Impaired glucose tolerance | 0.000271442 | 1 | 0 | BeFree |
Liver and Intrahepatic Biliary Tract Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
Deficiency of pyruvate kinase | 0.000271442 | 1 | 0 | BeFree |
Uridine monophosphate hydrolase deficiency | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of liver | 0.000271442 | 1 | 0 | BeFree |
Fragile X chromosome | 0.000271442 | 1 | 0 | BeFree |
Respiratory distress | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of esophagus | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Malignant Peripheral Nerve Sheath Tumor | 0.000271442 | 1 | 0 | BeFree |
hereditary anemia | 0.000271442 | 1 | 0 | BeFree |
Plasmodium vivax infection | 0.000271442 | 1 | 0 | BeFree |
Cardiomyopathies | 0.000271442 | 1 | 0 | BeFree |
Cholestasis in newborn | 0.000271442 | 1 | 2 | BeFree |
Degenerative disorder | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Erythrocytosis | 0.000271442 | 1 | 0 | BeFree |
Slow acetylator due to N-acetyltransferase enzyme variant | 0.000271442 | 1 | 0 | BeFree |
6-Phosphogluconolactonase Deficiency | 0.000271442 | 1 | 0 | BeFree |
SPHEROCYTOSIS, TYPE 1 (disorder) | 0.000271442 | 1 | 0 | BeFree |
Incontinentia pigmenti, familial male-lethal type | 0.000271442 | 1 | 0 | BeFree |
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