Article
Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.
The Journal of biological chemistry - 31 Mar 2000
Gómez-Gallego F, Garrido-Pertierra A, Bautista J M
Abstract excerpt
The enzyme variant glucose-6-phosphate dehydrogenase (G6PD) A(-), which gives rise to human glucose-6-phosphate dehydrogenase deficiency, is a protein of markedly reduced structural stability. This variant differs from the normal enzyme, G6PD B, in two amino acid substitutions. A further nondeficient variant, G6PD A, bears only one of these two mutations and is structurally stable. In this study, the synergistic...
Topics
- Amino Acid Sequence
- Binding Sites
- Crystallography, X-Ray
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Humans
- Isoenzymes
- Molecular Sequence Data
- Phenotype
- Protein Folding
- Protein Structure, Secondary
- Protein Structure, Tertiary
- Thermodynamics