G6PD Gene - Glucose-6-Phosphate Dehydrogenase
Key enzyme in the pentose phosphate pathway, critical for cellular redox balance and associated with hemolytic anemia.
Gene Information Card
| Symbol | G6PD |
|---|---|
| Full Name | Glucose-6-Phosphate Dehydrogenase |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2539 ncbi.nlm.nih.gov/gene/2539 |
| Ensembl ID | ENSG00000160211 |
| UniProt ID | P11413 |
| OMIM ID | 305900 |
| HGNC ID | 4056 |
| Aliases | G6PD1, G6PDH, G6PD-A, G6PD-B |
Description
The G6PD gene encodes glucose-6-phosphate dehydrogenase, a cytosolic enzyme that catalyzes the first and rate-limiting step of the pentose phosphate pathway, producing NADPH. NADPH is essential for protecting cells, especially red blood cells, from oxidative damage. Mutations in G6PD cause G6PD deficiency, the most common human enzyme deficiency, leading to hemolytic anemia triggered by oxidative stress from drugs, infections, or fava beans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glucose-6-phosphate dehydrogenase deficiency | Loss-of-function mutations reduce NADPH production, impairing antioxidant capacity in erythrocytes, leading to hemolysis under oxidative stress. | ClinVar, OMIM |
| Hemolytic anemia, drug-induced | Oxidative drugs (e.g., primaquine, sulfonamides) overwhelm deficient G6PD activity, causing acute hemolysis. | ClinVar, NCBI |
| Favism | Ingestion of fava beans triggers oxidative hemolysis in G6PD-deficient individuals due to divicine and isouramil. | OMIM, ClinVar |
| Neonatal jaundice | G6PD deficiency increases bilirubin levels due to hemolysis, leading to hyperbilirubinemia in newborns. | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Adipose tissue | 8.3 | Low |
| Blood (whole) | 15.2 | Medium |
| Bone marrow | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 22.1 | Erythroleukemia cell line |
| HeLa | 14.5 | Cervical carcinoma |
| HepG2 | 16.3 | Hepatocellular carcinoma |
| A549 | 11.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202G>A (p.Val68Met) | Missense | Common in African populations (class A-) | Reduced enzyme activity, moderate deficiency |
| c.563C>T (p.Ser188Phe) | Missense | Common in Mediterranean populations (class B-) | Severe deficiency, favism risk |
| c.1376G>T (p.Arg459Leu) | Missense | Common in Asian populations | Moderate to severe deficiency |
| c.95A>G (p.His32Arg) | Missense | Rare | Mild deficiency |
Mutation functional classification
Loss of Function (LOF)
Most G6PD mutations are loss-of-function, reducing enzyme stability or catalytic activity, leading to decreased NADPH production and increased oxidative vulnerability.
Gain of Function (GOF)
No gain-of-function mutations are reported for G6PD.
Dominant Negative (DN)
G6PD is X-linked; heterozygous females show mosaic expression, but no dominant-negative mechanism is described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004345 - glucose-6-phosphate dehydrogenase activity | • GO:0006006 - glucose metabolic process |
| • GO:0006749 - glutathione metabolic process | • GO:0005829 - cytosol |
| • GO:0055114 - oxidation-reduction process |
Pathways
• Pentose phosphate pathway (hsa00030)
• Glutathione metabolism (hsa00480)
• Metabolic pathways (hsa01100)
Protein Summary
Glucose-6-phosphate dehydrogenase (G6PD) is a homodimeric enzyme of 515 amino acids (59 kDa) that catalyzes the conversion of glucose-6-phosphate to 6-phosphoglucono-δ-lactone, generating NADPH. NADPH is critical for maintaining reduced glutathione levels, protecting cells from oxidative stress. The enzyme is expressed in all tissues, with highest activity in erythrocytes, liver, and adrenal glands. Structural analysis reveals a Rossmann fold for NADP+ binding and a catalytic domain. Mutations cluster in the dimer interface and active site, affecting stability and activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| G6PD (p.G131V) Point Mutation in HCT 116 Cell Line | EDC03080 | Human | 2539 | Details Get a Quote |
| G6PD (p.V291M) Point Mutation in HCT 116 Cell Line | EDC03076 | Human | 2539 | Details Get a Quote |
| G6PD (p.H32R) Point Mutation in K-562 Cell Line | EDC03149 | Human | 2539 | Details Get a Quote |
| G6PD (p.H32R) Point Mutation in HCT 116 Cell Line | EDC03077 | Human | 2539 | Details Get a Quote |
| G6PD (p.L342F) Point Mutation in HCT 116 Cell Line | EDC03108 | Human | 2539 | Details Get a Quote |
| G6PD (p.L342F) Point Mutation in K-562 Cell Line | EDC03152 | Human | 2539 | Details Get a Quote |
| G6PD (p.R459L) Point Mutation in K-562 Cell Line | EDC03168 | Human | 2539 | Details Get a Quote |
| G6PD (p.R463H) Point Mutation in K-562 Cell Line | EDC03154 | Human | 2539 | Details Get a Quote |
| G6PD (p.G131V) Point Mutation in K-562 Cell Line | EDC03145 | Human | 2539 | Details Get a Quote |
| G6PD Knockout A-549 Cell Line | EDC90419 | Human | 2539 | Details Get a Quote |
| G6PD（p.R459L） Point Mutation in HCT 116 Cell Line | EDC03066 | Human | 2539 | Details Get a Quote |
| G6PD（p.F173L） Point Mutation in K-562 Cell Line | EDC03008 | Human | 2539 | Details Get a Quote |
| G6PD（p.G316S） Point Mutation in K-562 Cell Line | EDC03144 | Human | 2539 | Details Get a Quote |
Displaying Records 1 To 13 Of 13 Records
