Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate.
作者信息
Hirono A, Nakayama S, Fujii H, Miwa S
机构信息
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.
出版信息
Am J Hematol. 1994 Feb;45(2):185-6. doi: 10.1002/ajh.2830450217.
PMID:8141125
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.
摘要
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