Molecular abnormality of a unique Japanese glucose-6-phosphate dehydrogenase variant (G6PD Kobe) with a greatly increased affinity for galactose-6-phosphate.
- Published Article
American journal of hematology
- Publication Date
Feb 01, 1994
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.
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The corresponding record at NLM can be accessed at https://www.ncbi.nlm.nih.gov/pubmed/8141125