G6PD
Chr XX-linkedglucose-6-phosphate dehydrogenase
Also known as: CNSHA1, G6PD1
Glucose-6-phosphate dehydrogenase catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, producing NADPH which provides crucial reducing power for cellular defense against oxidizing agents and for biosynthetic reactions. Mutations cause G6PD deficiency, resulting in congenital nonspherocytic hemolytic anemia with variable severity ranging from neonatal jaundice to acute hemolytic episodes or severe chronic anemia. The gene shows X-linked inheritance and is highly constrained against loss-of-function variants, with numerous missense variants described that produce wide-ranging levels of enzyme activity.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
G6PD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools