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The official name of this gene is “potassium channel, inwardly rectifying subfamily J, member 11.”
KCNJ11 is the gene's official symbol. The KCNJ11 gene is also known by other names, listed below.
The KCNJ11 gene provides instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits. Four subunits are produced from the KCNJ11 gene, and four are produced from another gene called ABCC8.
K-ATP channels are found in beta cells, which are cells in the pancreas that secrete the hormone insulin. The K-ATP channels are embedded in cell membranes, where they open and close in response to the amount of glucose in the bloodstream. Glucose is a simple sugar and the primary energy source for most cells in the body. Closure of the K-ATP channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels.
The KCNJ11 gene belongs to a family of genes called KCN (potassium channels).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
More than 30 mutations in the KCNJ11 gene have been found to cause congenital hyperinsulinism. This condition causes frequent episodes of low blood sugar (hypoglycemia), decreased energy, and irritability. Most of these mutations change single protein building blocks (amino acids) in the protein sequence, reducing or preventing activity of the K-ATP channels. Loss of K-ATP channel function leads to the constant release of insulin from beta cells. As a result, glucose is rapidly removed from the bloodstream. Without treatment, the hypoglycemia caused by congenital hyperinsulinism may result in serious complications such as intellectual disability and seizures.
At least 30 mutations in the KCNJ11 gene have been identified in people with permanent neonatal diabetes mellitus. Individuals with this condition often have a low birth weight and develop increased blood sugar (hyperglycemia) within the first 6 months of life.
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 sugar control.
Other KCNJ11 gene mutations that have a relatively mild effect on K-ATP channel function as compared to that seen in permanent neonatal diabetes mellitus (see above) cause a condition called transient neonatal diabetes mellitus. Infants with this condition have hyperglycemia during the first 6 months of life, but their blood sugar returns to normal by age 18 months. However, affected individuals usually develop hyperglycemia again during adolescence or early adulthood. As in permanent neonatal diabetes mellitus, KCNJ11 gene mutations that cause transient neonatal diabetes mellitus also interfere with K-ATP channel closure and lead to a reduction in insulin secretion.
A normal variation (polymorphism) in the KCNJ11 gene is associated with an increased risk of type 2 diabetes mellitus, the most common form of diabetes. This variant leads to a change in the K-ATP channel, replacing the amino acid glutamic acid with the amino acid lysine at position 23, written as Glu23Lys or E23K. People with type 2 diabetes mellitus have hyperglycemia because the body does not respond correctly to the insulin secreted from beta cells. The same variant has also been associated with changes in the heart's response to stress, leading to an increased risk of heart failure. Although changes in the KCNJ11 gene can be associated with type 2 diabetes mellitus and heart failure, a combination of lifestyle, genetic, and environmental factors all play a part in determining the risk of these complex disorders.
Cytogenetic Location: 11p15.1
Molecular Location on chromosome 11: base pairs 17,364,823 to 17,389,330
The KCNJ11 gene is located on the short (p) arm of chromosome 11 at position 15.1.
More precisely, the KCNJ11 gene is located from base pair 17,364,823 to base pair 17,389,330 on chromosome 11.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about KCNJ11 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; amino acid ; ATP ; cell ; channel ; congenital ; diabetes ; diabetes mellitus ; disability ; gene ; glucose ; glutamic acid ; heart failure ; hormone ; hyperglycemia ; hyperinsulinism ; hypoglycemia ; insulin ; lysine ; neonatal ; pancreas ; polymorphism ; potassium ; protein ; protein sequence ; secretion ; simple sugar ; stress ; subunit ; transient
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.