G6PD

Chr XX-linked

glucose-6-phosphate dehydrogenase

Also known as: CNSHA1, G6PD1

NCBI Gene: 2539ENSG00000160211UniProt: P11413

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]

Primary Disease Associations & Inheritance

{Resistance to malaria due to G6PD deficiency}MIM #611162
Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficientMIM #300908
X-linked
1
Active trials
0
Pathogenic / LP
0
ClinVar variants
413
Pubs (1 yr)
2.0
Missense Z
0.32
LOEUF· LoF intolerant
Clinical Summary— G6PD
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Gene-Disease Validity (ClinGen)
G6PD deficiency · XLDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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GeneReview available — G6PD
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.32LOEUF
pLI 0.972
Z-score 3.71
OE 0.10 (0.04–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.00Z-score
OE missense 0.65 (0.58–0.74)
174 obs / 265.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.10 (0.04–0.32)
0≤0.351.4
Missense OE0.65 (0.58–0.74)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 2 / 19.8Missense obs/exp: 174 / 265.8Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

G6PD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients