MOLECULAR ABNORMALITY OF A UNIQUE JAPANESE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT (G6PD KOBE) WITH A GREATLY INCREASED AFFINITY FOR GALACTOSE-6-PHOSPHATE
A. Hirono et al., MOLECULAR ABNORMALITY OF A UNIQUE JAPANESE GLUCOSE-6-PHOSPHATE-DEHYDROGENASE VARIANT (G6PD KOBE) WITH A GREATLY INCREASED AFFINITY FOR GALACTOSE-6-PHOSPHATE, American journal of hematology, 45(2), 1994, pp. 185-186
Systematic molecular analysis of a Japanese class 1 glucose-6-phosphat
e dehydrogenase (G6PD) variant (GGPD Kobe) cDNA revealed a unique nucl
eotide substitution(1318 C to T) in exon 11, which predicts a substitu
tion 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-g-phosphate (G6P) of
GGPD Kobe suggest the interaction between both NADP and G6P binding s
ites. (C) 1994 Wiley-Liss, Inc.