The potassium channel inwardly rectifying subfamily J member 11 (KCNJ11) gene is highly expressed in the pancreas where it encodes the pore-forming Kir6.2 subunit of the ATP-sensitive potassium channel. Heterozygous mutations in KCNJ11 cause defective glucose-stimulated insulin secretion by disrupting the activity of the potassium channel. KCNJ11-MODY may be characterized by congenital hypoglycemic hyperinsulinism, a transient or permanent form of neonatal diabetes mellitus, or late-onset diabetes mellitus (PMID:33292863).
Monogenic diseases caused by KCNJ11 gene mutation are rare and easily misdiagnosed. It has been shown that mutations in the KCNJ11 gene are associated with neonatal diabetes mellitus (NDM), maturity-onset diabetes of the young 13 (MODY13), type 2 diabetes mellitus (T2DM), and hyperinsulinemic hypoglycemia (PMID: 32935446).
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