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G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability

Authors :
Axel Kahn
G. Giron
Dominique Cottreau
M. L. North
J.M. Lang
F. Oberling
Source :
Human Genetics. 43:85-89
Publication Year :
1978
Publisher :
Springer Science and Business Media LLC, 1978.

Abstract

A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.

Details

ISSN :
14321203 and 03406717
Volume :
43
Database :
OpenAIRE
Journal :
Human Genetics
Accession number :
edsair.doi.dedup.....a9e5e0832229ee6eb19bea661c3dec70