Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus).

doi:10.1002/humu.9367

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Article

Marked decrease in specific activity contributes to disease phenotype in two human glucose 6-phosphate dehydrogenase mutants, G6PD(Union) and G6PD(Andalus).

Human mutation - 1 Sept 2005

Wang Xiao-Tao, Lam Veronica M S, Engel Paul C

Abstract excerpt

Clones overexpressing clinical glucose 6-phosphate dehydrogenase (G6PD) mutants Union (c.1360C>T/p.Arg454Cys) and Andalus (c.1361G>A/p.Arg454His), have been constructed. These abolish a salt bridge between Arg454 and Asp 286. One mutant is reportedly a Class II clinical variant and the other a Class I. Kinetic studies of the purified proteins reveal that, for both mutants, kcat is about 10-fold decreased, thus...

Topics

Anemia, Hemolytic
Enzyme Stability
Erythrocytes
Genetic Markers
Glucosephosphate Dehydrogenase
Glucosephosphate Dehydrogenase Deficiency
Humans
Kinetics
Leukocytes
Mutation
NADP
Phenotype
Plasmids
Temperature

Source

Open in PubMed

Identifiers

PMID: 16088936
DOI: 10.1002/humu.9367

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