G6PD

Chr XX-linked

glucose-6-phosphate dehydrogenase

Also known as: CNSHA1, G6PD1

NCBI Gene: 2539 ENSG00000160211 UniProt: P11413 OMIM: 305900

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Resistance to malaria due to G6PD deficiency}MIM #611162

Anemia, congenital, nonspherocytic hemolytic, 1, G6PD deficientMIM #300908

X-linked

Clinical highlights

Gene-disease validity (ClinGen)

G6PD deficiency · XLDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

628

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

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Mechanism

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