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.

Kir6.2, a pore-forming subunit of the ATP-sensitive potassium (KATP) channels, regulates the functions of metabolically active tissues and acts as an ideal therapeutic target for multiple diseases.

Here we show that the Kir6.2 pore-forming subunit is significantly overexpressed in the astrocytes of human BC specimens, and we speculate about Kir6.2's potential role in the pathophysiology of BCs and its exploitation as a potential pharmacological target in TBI.

Kir6.2 is a subtype of inwardly rectifying potassium channels that contribute to regulating the resting membrane potential and controlling excitability in various cells. It forms part of KATP channels, which link cellular metabolic status to electrical activity and are found in the brain, heart, muscles, and pancreatic cells.

The Kir6.2/SUR1 isoform is the predominant isoform expressed by insulin-secreting β-cells of pancreatic islets, and by neurons in brain, and has essential roles in hormone secretion and learning and memory. A second pair of K ATP genes, located on human chromosome 12 (and mouse Chr 6), includes ABCC9 encoding SUR2 and KCNJ8 encoding Kir6.1.

2004年4月29日 · We identified six novel, heterozygous mutations in the gene encoding Kir6.2 in 10 of the 29 probands who had permanent neonatal diabetes.

2024年3月20日 · Here, we report the cryoEM structure of a K ATP channel harboring the neonatal diabetes mutation Kir6.2-Q52R, in the open conformation, bound to amphipathic molecules consistent with natural...

Kir6.2 is a protein encoded by the KCNJ11 gene (potassium inwardly rectifying channel, subfamily J, member 11 [Homo sapiens (human)]; NCBI Reference Sequence: NG_012446.1; OMIM: 600937).

Gain-of-function mutations in Kir6.2 cause permanent neonatal diabetes mellitus (PNDM) by reducing the ATP sensitivity of the K (ATP) channel and increasing the K (ATP) current, which is predicted to inhibit beta-cell electrical activity and insulin secretion.

Kir6.2 regulates electrical signaling in a variety of cell types, including brain, heart, skeletal muscle, and the pancreas [2,90], and acts by coupling K + movement with various aspects of cellular metabolic activity [2] (Fig. 3).