title: Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate.
abstract: Systematic molecular analysis of a Japanese class 1 glucose-6-phosphate dehydrogenase (G6PD) variant (G6PD Kobe) cDNA revealed a unique nucleotide substitution (1318 C to T) in exon 11, which predicts a substitution of leucine for phenylalanine at residue 440. This substitution is located in a region surrounding the putative structural NADP-binding domain. The markedly abnormal kinetics of glucose-6-phosphate (G6P) of G6PD Kobe suggest the interaction between both NADP and G6P binding sites.
authors.affiliation: Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Hirono
authors.forename: S
authors.initials: S
authors.lastname: Nakayama
authors.forename: H
authors.initials: H
authors.lastname: Fujii
authors.forename: S
authors.initials: S
authors.lastname: Miwa
mesh_terms: D001483:Base Sequence; D005695:Galactosephosphates / Q000378:metabolism*; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry* / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data
chemical_list: D005695:Galactosephosphates; C038269:galactose-6-phosphate; C086467:glucose-6-phosphate dehydrogenase Kobe; D005954:Glucosephosphate Dehydrogenase