Article
A comprehensive map of human glucokinase variant activity.
Genome biology - 26 Apr 2023
Gersing Sarah, Cagiada Matteo, Gebbia Marinella, Gjesing Anette P, Coté Atina G, Seesankar Gireesh, Li Roujia, Tabet Daniel, Weile Jochen, Stein Amelie, Gloyn Anna L, Hansen Torben, Roth Frederick P, Lindorff-Larsen Kresten, Hartmann-Petersen Rasmus
Abstract excerpt
BACKGROUND: Glucokinase (GCK) regulates insulin secretion to maintain appropriate blood glucose levels. Sequence variants can alter GCK activity to cause hyperinsulinemic hypoglycemia or hyperglycemia associated with GCK-maturity-onset diabetes of the young (GCK-MODY), collectively affecting up to 10 million people worldwide. Patients with GCK-MODY are frequently misdiagnosed and treated unnecessarily. Genetic...
Topics
- Humans
- Glucokinase
- Diabetes Mellitus, Type 2
- Mutation, Missense
- Genetic Testing
- Mutation