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Reviewed April 2006
What is the official name of the KCNE1 gene?
The official name of this gene is “potassium voltage-gated channel, Isk-related family, member 1.”
KCNE1 is the gene's official symbol. The KCNE1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the KCNE1 gene?
The KCNE1 gene provides instructions for making a protein that regulates the activity of potassium channels. These channels, which transport positively charged potassium atoms (ions) into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.
The specific function of a potassium channel depends on its protein components and its location in the body. The KCNE1 protein regulates a channel made up of proteins produced by the KCNQ1 gene. Four alpha subunits, each made from the KCNQ1 gene, form the structure of each channel. One beta subunit, produced from the KCNE1 gene, binds to the channel and regulates its activity.
These channels are active in the inner ear and in heart (cardiac) muscle, where they transport potassium ions out of cells. In the inner ear, the channels play a role in maintaining the proper ion balance needed for normal hearing. In cardiac muscle, the channels are involved in recharging the muscle after each contraction to maintain a regular heartbeat. The KCNE1 protein is also produced in the kidneys, testes, and uterus, where it probably regulates the activity of other channels.
Does the KCNE1 gene share characteristics with other genes?
The KCNE1 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? in the Handbook.
How are changes in the KCNE1 gene related to health conditions?
Where is the KCNE1 gene located?
Cytogenetic Location: 21q22.12
Molecular Location on chromosome 21: base pairs 34,446,687 to 34,512,274
The KCNE1 gene is located on the long (q) arm of chromosome 21 at position 22.12.
More precisely, the KCNE1 gene is located from base pair 34,446,687 to base pair 34,512,274 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNE1?
You and your healthcare professional may find the following resources about KCNE1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the KCNE1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding KCNE1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
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? in the Handbook.