Kcnj11, the potassium inwardly rectifying channel, subfamily J, member 11 gene, encodes the Kir6.2 subunit of the pancreatic β-cell ATP-sensitive potassium (KATP) channel. This channel is a key component of the glucose-stimulated insulin secretion pathway [1,2,8]. Insulin secretion is mediated through the KATP channel, and thus, Kcnj11 plays a vital role in maintaining normal glucose homeostasis [2].

Mutations in Kcnj11 can lead to dysregulated insulin secretion. Inactivating mutations cause an oversecretion of insulin, resulting in congenital hyperinsulinism, while activating mutations lead to diabetes [1]. Gain-of-function (GOF) variants of Kcnj11 cause neonate diabetes and maturity-onset diabetes of the young (KCNJ11-MODY), while loss-of-function (LOF) variants lead to hyperinsulinemia hypoglycemia and subsequent diabetes [3]. Some studies have also explored the association between Kcnj11 polymorphisms and the risk of diabetes mellitus, gestational diabetes mellitus, and essential hypertension [2,4,5,6]. Additionally, long-term sulfonylurea use has been shown to be an effective, sustainable, and safe treatment for KCNJ11-related diabetes [7].

In conclusion, Kcnj11 is crucial for insulin secretion regulation and glucose homeostasis. Studies on Kcnj11-related mutations and polymorphisms have enhanced our understanding of its role in various diabetes-related conditions and other diseases like essential hypertension. The research on Kcnj11 provides insights into the underlying genetic mechanisms of these diseases, which may potentially lead to better diagnostic and treatment strategies.