Gene KCNJ11
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Also known as
Kir6.2, PHHI, TNDM3, potassium inwardly rectifying channel J11Overview
KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11) encodes the Kir6.2 subunit of the ATP-sensitive potassium channel (KATP). This channel is critical in pancreatic beta cells where it links cellular metabolism to insulin secretion. When blood glucose rises, increased ATP closes the channel, leading to cell depolarization and insulin release.Mutations in KCNJ11 cause several forms of diabetes. Activating mutations cause permanent neonatal diabetes, where the channel remains open even when glucose is high, preventing insulin secretion. These patients often respond dramatically to sulfonylurea drugs, which close the channel. The E23K polymorphism is associated with type 2 diabetes risk in the general population.
Understanding your KCNJ11 genetic status provides insights into insulin secretion mechanisms and diabetes susceptibility. This information is particularly important for neonatal diabetes diagnosis and treatment selection, as sulfonylureas can replace insulin therapy in affected individuals.