The GCK gene is expressed in liver and beta cells. Glucokinase catalyzes adenosine triphosphate (ATP)-dependent phosphorylation of glucose to produce glucose-6-phosphate, which is the rate-limiting reaction of glucose metabolism. Heterozygous mutations may either reduce enzymatic activity or promote glucokinase misfolding, aggregation, and degradation, leading to defective glucose sensing in beta cells, elevated threshold for glucose-stimulated insulin secretion, and impaired postprandial hepatic glycogen storage. GCK-MODY is generally non-progressive and characterized by preserved insulin secretion, mild fasting hyperglycemia present from birth, and minor postprandial glucose excursions. Consequently, this subtype is detected incidentally and treatment with glucose-lowering medications is unnecessary since patients tend to be asymptomatic (PMID:33292863).
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