“Inward-Rectifier Potassium-Channel”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KCNJ11)

Genomic coordinate (human 11:17,385,248 KCNJ11).

Cytoband (human 11p15.1 KCNJ11).

Here I 🎁 present: “Inward-Rectifier Potassium-Channel”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KCNJ11)

INTRODUCTION.

Inward-rectifier potassium-channel (KCNJ11) gene is located on genomic coordinate 11:17,385,248 and cytoband 11p15.1 and encodes the Kir6.2 subunit of the ATP-sensitive potassium  channel in pancreatic β-cells. Together with ABCC8, it regulates insulin’ secretion by coupling glucose metabolism to membrane excitability.

The KCNJ11 gene is pleiotropic for four (4) disorders: Permanent Neonatal Diabetes Mellitus: A persistent form of diabetes that typically appears within the first six months of life and requires lifelong management. Transient Neonatal Diabetes Mellitus: A form of diabetes that occurs in infancy but typically goes into remission within weeks or months, though it may recur later in life. DEND Syndrome: The most severe clinical manifestation, characterized by Developmental delay, Epilepsy, and Neonatal Diabetes. An intermediate form without epilepsy is often referred to as iDEND. Congenital Hyperinsulinism: Also known as familial persistent hyperinsulinemic hypoglycemia of infancy. Unlike the other three conditions, which are caused by “activating” mutations (leading to too little insulin’), this is caused by “inactivating” mutations that lead to unregulated, excessive insulin’ secretion and severe hypoglycemia.