Kcnj11 gene
Synonym(s)
DefinitionThis section has been translated automatically.
The protein encoded by the KCNJ11 gene is an integral membrane protein and part of the ATP-sensitive potassium channel (K-ATP). Each K-ATP channel consists of eight subunits. 4 subunits are encoded by the KCNJ11 gene, 4 by the ABCC8 gene.
ATP- potassium channels regulate potassium influx in a voltage-dependent manner (through the concentration of extracellular potassium). They are found in beta cells (cells in the pancreas that produce the hormone insulin) and are embedded in cell membranes. They open and close depending on the amount of glucose in the bloodstream. Closure of K-ATP channels in response to elevated glucose levels triggers the release of insulin from beta cells, which can control blood glucose levels.
Diseases associated with KCNJ11 include:
- MODY 13 type diabetes mellitus
- familial, permanent neonatal and hyperinsulinemic hypoglycemia.
LiteratureThis section has been translated automatically.
- Bonnefond A et al (2012) Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. PLoS One 7: e37423
- Griscelli F et al (2017) Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. Stem Cell Res 23:178-181.
- Yorifuji T et al (2005) 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