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G6PD Vientiane: A new glucose-6-phosphate dehydrogenase variant with increased stability
- 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.
- Subjects :
- Adult
Male
Starch
Electrophoresis, Starch Gel
Deficient mutant
Genetic Variation
Substrate (chemistry)
Glucosephosphate Dehydrogenase
Hydrogen-Ion Concentration
Pyruvate dehydrogenase phosphatase
Biology
NAD
Molecular biology
Molecular medicine
chemistry.chemical_compound
Antigen
chemistry
Laos
Molecular stability
Genetics
Humans
Glucose-6-phosphate dehydrogenase
France
NADP
Genetics (clinical)
Subjects
Details
- ISSN :
- 14321203 and 03406717
- Volume :
- 43
- Database :
- OpenAIRE
- Journal :
- Human Genetics
- Accession number :
- edsair.doi.dedup.....a9e5e0832229ee6eb19bea661c3dec70