KCNJ11 gene mutations that cause permanent neonatal diabetes mellitus change single amino acids in the protein sequence. These mutations result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood glucose control.

Kir6.2 is a major subunit of the ATP-sensitive K + channel, a lipid-gated inward-rectifier potassium ion channel. [5] . The gene encoding the channel is called KCNJ11 and mutations in this gene are associated with congenital hyperinsulinism. [6] It is an integral membrane protein.

Mar 30, 2025 · KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11) is a Protein Coding gene. Diseases associated with KCNJ11 include Diabetes Mellitus, Permanent Neonatal, 2 and Maturity-Onset Diabetes Of The Young, Type 13. Among its related pathways are Inwardly rectifying K+ channels and Cardiac conduction.

Dec 1, 2022 · Due to the central role in insulin secretion, the potassium inwardly-rectifying channel subfamily J member 11 (KCNJ11) gene is one of the essential genes for type 2 diabetes (T2D) predisposition....

KCNJ11 mutations are rare in patients diagnosed with type 1 diabetes, the identification of a KCNJ11 mutation may have important treatment implications. mutations in KCNJ11 are the first genetic cause for remitting as well as permanent diabetes

Jan 11, 2025 · Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.

Feb 8, 2025 · Enables ATP binding activity; ATP-activated inward rectifier potassium channel activity; and ankyrin binding activity. Involved in negative regulation of insulin secretion and potassium ion import across plasma membrane.

The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J. Clin. Endocr. Metab. 90: 3174-3178, 2005.

Apr 15, 2025 · Currently, it is known that variants in the potassium channel subfamily J member 11 (KCNJ11) gene, which encodes for an inward-rectifier potassium ion channel Kir6.2, are associated with both the susceptibility of T2D and several clinical manifestations (Haghvirdizadeh et …

Loss of K ATP channel function due to mutations in ABCC8 or KCNJ11, genes that encode the sulfonylurea receptor 1 or the inward rectifier Kir6.2 subunit of the channel, is a major cause of congenital hyperinsulinism.