Article
Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type.
Biochemistry - 24 Mar 2009
Ralph Erik C, Sun Shaoxian
Abstract excerpt
The glucokinase V62M and G72R mutations are naturally occurring and known to associate with hyperglycemia in humans. Structurally, V62 and G72 residues are located in close proximity to the allosteric site where hypoglycemia-linked activating mutations are clustered. To address the mechanism by which these variants alter the physiological phenotype, we characterized the biochemical and biophysical properties of...
Topics
- Diabetes Mellitus, Type 2
- Enzyme Stability
- Genetic Variation
- Glucokinase
- Glucose
- Humans
- Kinetics
- Mutation, Missense