title: The molecular basis of glucose-6-phosphate dehydrogenase deficiency.
abstract: With more than 300 different variants reported, the human enzyme glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) is one of the most polymorphic proteins known. An estimated 400 million people throughout the world are deficient in G6PD; numerous lines of evidence indicate that this is because female heterozygotes have a selective advantage in malaria infections. The cloning of the G6PD gene has made it possible to clarify the molecular basis underlying this enzyme deficiency and polymorphism.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
authors.forename: T
authors.initials: T
authors.lastname: Vulliamy
authors.forename: P
authors.initials: P
authors.lastname: Mason
authors.forename: L
authors.initials: L
authors.lastname: Luzzatto
mesh_terms: D000595:Amino Acid Sequence; D005075:Biological Evolution; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D016778:Malaria, Falciparum / Q000208:ethnology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012641:Selection, Genetic