KCNJ11 encodes the Kir6.2 subunit of the ATP sensitive, inward-rectifier potassium ion channel. In pancreatic beta cells, the K-ATP channel is an octameric complex with four KCNJ11 subunits forming the channel pore and four SUR1 subunits contributing to the regulation of channel gating. Embedded in the cell membrane, these K-ATP channels play an important physiological role by regulating insulin secretion in response to blood glucose levels. Mutations in the KCNJ11 gene are associated with Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2), characterized by unregulated insulin secretion, and Permanent Neonatal Diabetes Mellitus (PNDM), a rare form of insulin secretory failure associated with intrauterine growth retardation. KCNJ11 mutations are also linked to transient neonatal diabetes mellitus and maturity onset diabetes of the young, type 13 and an increased risk of non-insulin dependent diabetes mellitus.