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GCK Gene

Meaning

The GCK gene encodes the enzyme glucokinase, which serves as the crucial and definitive glucose sensor in pancreatic beta cells and hepatocytes, playing a pivotal role in maintaining systemic glucose homeostasis. Mutations in the GCK gene are a common cause of Maturity-Onset Diabetes of the Young type 2, characterized by mild, non-progressive hyperglycemia, and persistent hyperinsulinemic hypoglycemia of infancy. This enzyme is central to regulating the threshold for insulin secretion in precise response to blood glucose fluctuations.