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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
G6PD
glucose-6-phosphate dehydrogenase
Chromosome X Β· Xq28
NCBI Gene: 2539Ensembl: ENSG00000160211.21HGNC: HGNC:4057UniProt: A0A384NL00
560PubMed Papers
21Diseases
0Drugs
231Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
glucose-6-phosphate dehydrogenase activityprotein bindingD-glucose bindingpentose-phosphate shunt, oxidative branchanemia, nonspherocytic hemolytic, due to G6PD deficiencyanemia (phenotype)glucosephosphate dehydrogenase deficiencygenetic disorder
✦AI Summary

G6PD (glucose-6-phosphate dehydrogenase) is an X-linked enzyme that catalyzes the rate-limiting step of the pentose phosphate pathway, providing essential NADPH for cellular biosynthesis and antioxidant defense 1. The enzyme protects red blood cells against oxidative damage by maintaining glutathione in its reduced state 2. G6PD deficiency is the most common human enzyme defect, affecting over 400 million people worldwide, with a geographic distribution that correlates with malaria endemicity, supporting the malaria protection hypothesis 12. Over 200 mutations have been identified, mostly single nucleotide changes causing amino acid substitutions that compromise protein stability or catalytic activity 23. Clinical manifestations include neonatal jaundice and acute hemolytic anemia triggered by oxidative stressors such as certain drugs, infections, or fava beans 45. Some variants cause chrX hemolytic anemia 1. Beyond erythrocytes, G6PD plays important roles in immune cell metabolism and cancer cell proliferation through PPP activation 67. Management focuses on avoiding known triggers, with only seven medications having solid evidence for prohibition in G6PD-deficient patients 4.

Sources cited
1
G6PD deficiency affects over 400 million people worldwide and correlates with malaria distribution
PMID: 18177777
2
Over 200 G6PD mutations are known, causing red cell vulnerability to oxidative damage
PMID: 32702756
3
Only seven medications have solid evidence for prohibition in G6PD-deficient patients
PMID: 20701405
4
Clinical manifestations include neonatal jaundice and hemolysis triggered by oxidative stressors
PMID: 31609781
5
Mutations are mostly single point mutations causing amino acid substitutions
PMID: 3393536
6
G6PD has immunologic roles beyond red blood cells in leukocyte metabolism
PMID: 38938571
7
G6PD axis promotes cancer cell proliferation through pentose phosphate pathway activation
PMID: 37597521
Disease Associationsβ“˜21
anemia, nonspherocytic hemolytic, due to G6PD deficiencyOpen Targets
0.85Strong
anemia (phenotype)Open Targets
0.77Strong
glucosephosphate dehydrogenase deficiencyOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.53Moderate
hemolytic anemiaOpen Targets
0.49Moderate
infectionOpen Targets
0.49Moderate
cancerOpen Targets
0.28Weak
Congenital hemolytic anemiaOpen Targets
0.27Weak
congenital nonspherocytic hemolytic anemiaOpen Targets
0.27Weak
familial hemolytic anemiaOpen Targets
0.27Weak
hydrops fetalisOpen Targets
0.19Weak
Non-immune hydrops fetalisOpen Targets
0.19Weak
hemolysisOpen Targets
0.18Weak
incontinentia pigmentiOpen Targets
0.16Weak
ectodermal dysplasia and immunodeficiency 1Open Targets
0.15Weak
immunodeficiency 33Open Targets
0.15Weak
neoplasmOpen Targets
0.12Weak
anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndromeOpen Targets
0.12Weak
autoinflammatory disease, X-linkedOpen Targets
0.12Weak
Decreased glucosephosphate isomerase levelOpen Targets
0.12Weak
Anemia, congenital, non-spherocytic hemolytic, 1UniProt
Pathogenic Variants231
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)Pathogenic
G6PD MAHIDOL|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to
β˜…β˜…β˜†β˜†2026β†’ Residue 193
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to
β˜…β˜…β˜†β˜†2026β†’ Residue 136
NM_000402.4(G6PD):c.961G>A (p.Val321Met)Pathogenic
G6PD VIANGCHAN|G6PD JAMMU|G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Inborn genetic diseases|G6PD deficient hemolytic anemia|Malaria, susceptibility to|G6PD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 321
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)Pathogenic
G6PD ORISSA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Malaria, susceptibility to|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 74
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)Pathogenic
not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to
β˜…β˜…β˜†β˜†2026β†’ Residue 454
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)Pathogenic
G6PD MEDITERRANEAN|G6PD CAGLIARI|not provided|G6PD SASSARI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases|Hemolytic anemia, G6PD deficient (favism)|G6PD deficient hemolytic anemia|Malaria, susceptibility to|See cases|G6PD-related disorder|Granulomatous disease, chronic, X-linked
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 199
NM_000402.4(G6PD):c.934G>C (p.Asp312His)Pathogenic
G6PD SEATTLE-LIKE|G6PD MODENA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 312
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)Pathogenic
G6PD AURES|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 78
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)Pathogenic
G6PD KAIPING|G6PD PETRICH-LIKE|G6PD SAPPORO-LIKE|G6PD DHON|G6PD ANANT|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|Inborn genetic diseases|Malaria, susceptibility to
β˜…β˜…β˜†β˜†2026β†’ Residue 493
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)Pathogenic
G6PD MALAGA|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 211
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)Pathogenic
G6PD KALYAN|G6PD KERALA-KALYAN|G6PD KERALA|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|not provided|Malaria, susceptibility to|Congenital nonspherocytic hemolytic anemia|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 347
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)Pathogenic
G6PD AGRIGENTO|G6PD TAIWAN-HAKKA|G6PD CANTON|G6PD GIFU|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|G6PD deficiency|not provided|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 489
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)Pathogenic
G6PD CHATHAM|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|not provided|Inborn genetic diseases|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 365
NM_001360016.2(G6PD):c.1246G>A (p.Glu416Lys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 416
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)Pathogenic
G6PD TAIWAN-HAKKA 2|not specified|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Anemia, nonspherocytic hemolytic, due to G6PD deficiency;Malaria, susceptibility to|Malaria, susceptibility to
β˜…β˜…β˜†β˜†2026β†’ Residue 195
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)Pathogenic
Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 166
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)Pathogenic
G6PD deficiency|not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD-related disorder|Malaria, susceptibility to;Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 323
NM_001360016.2(G6PD):c.1361G>C (p.Arg454Pro)Pathogenic
not provided|Anemia, nonspherocytic hemolytic, due to G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 454
NM_000402.4(G6PD):c.683G>A (p.Arg228His)Pathogenic
G6PD NILGIRI|Anemia, nonspherocytic hemolytic, due to G6PD deficiency|Malaria, susceptibility to|G6PD deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 228
View on ClinVar β†—
Related Genes
TPI1Protein interaction100%ME1Protein interaction100%ME3Protein interaction100%GPX6Protein interaction100%GPX3Protein interaction100%PGLSProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
62%
Ovary
47%
Brain
31%
Heart
11%
Liver
9%
Gene Interaction Network
Click a node to explore
G6PDTPI1ME1ME3GPX6GPX3PGLS
PROTEIN STRUCTURE
Preparing viewer…
PDB6JYU Β· 1.89 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.05 [0.02–0.16]
RankingsWhere G6PD stands among ~20K protein-coding genes
  • #433of 20,598
    Most Researched560 Β· top 5%
  • #278of 5,498
    Most Pathogenic Variants231 Β· top 10%
  • #271of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedG6PD
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Glucose-6-phosphate dehydrogenase deficiency.
PMID: 18177777
Lancet Β· 2008
1.00
2
Glucose-6-phosphate dehydrogenase deficiency.
PMID: 32702756
Blood Β· 2020
0.90
3
G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.
PMID: 39772392
Cell Rep Β· 2025
0.82
4
Medications and glucose-6-phosphate dehydrogenase deficiency: an evidence-based review.
PMID: 20701405
Drug Saf Β· 2010
0.80
5
Community expansion and gene geography of sickle cell trait and G6PD deficiency, and natural selection against malaria: experience from tribal land of India.
PMID: 22264009
Cardiovasc Hematol Agents Med Chem Β· 2012
0.78