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Molecular abnormality of a unique japanese glucose‐6‐phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose‐6‐phosphate
Author(s) -
Hirono Akira,
Nakayama Shiro,
Fujii Hisaichi,
Miwa Shiro
Publication year - 1994
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830450217
Subject(s) - glucose 6 phosphate dehydrogenase , dehydrogenase , biochemistry , exon , nucleotide , biology , phosphate , leucine , enzyme , chemistry , microbiology and biotechnology , genetics , gene , amino acid
Abstract Systematic molecular analysis of a Japanese class 1 glucose‐6‐phosphate dehydrogenase (GGPD) variant (G6PD Kobe) cONA 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 (GGP) of GGPD Kobe suggest the interaction between both NADP and G6P binding sites. © 1994 Wiley‐Liss, Inc.