AlphaFold predicted structure
G6PD · P11413
Mean pLDDT
94.4/ 100
Very high
515 residues
Confidence breakdown
- Very high(≥ 90)91%
- Confident(70–90)3%
- Low(50–70)4%
- Very low(< 50)2%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
G6PD
Chr Xq28glucose-6-phosphate dehydrogenase
- Aliases:
- G6PD1
- MANE:
- ENST00000393562.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
COVID-19 research
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesCytopenias and congenital anaemias
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Primary immunodeficiency or monogenic inflammatory bowel disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesRare anaemia
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal anomalies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Fetal hydrops
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Disease associations (Open Targets)
anemia, nonspherocytic hemolytic, due to G6PD deficiency
0.85anemia (phenotype)
0.78G6PD deficiency
0.69hereditary disease
0.53infection
0.49non-autoimmune hemolytic anemia
0.48hypercholesterolemia, familial, 1
0.34cancer
0.28congenital nonspherocytic hemolytic anemia
0.27Congenital hemolytic anemia
0.27
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Glucose-6-phosphate 1-dehydrogenase
Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. Also catalyzes the conversion of NAADPH, which is produced by enzymes such as DUOX1, DUOX2 and NOX5 from NAADP and promotes Ca(2+) signaling during T cell activation, back to NAADP (PubMed:34784249)
Diseases associated with G6PD
Curated MONDO disease pages that list G6PD among their top associated genes.