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Reviewed January 2007
What is the official name of the KCNQ1 gene?
The official name of this gene is “potassium voltage-gated channel, KQT-like subfamily, member 1.”
KCNQ1 is the gene's official symbol. The KCNQ1 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 KCNQ1 gene?
The KCNQ1 gene belongs to a large family of genes that provide instructions for making potassium channels. These channels, which transport positively charged atoms (ions) of potassium 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. Channels made with the KCNQ1 protein are active in the inner ear and in heart (cardiac) muscle, where they transport potassium ions out of cells. In the inner ear, these channels help maintain the proper ion balance needed for normal hearing. In the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNQ1 protein is also produced in the kidney, lung, stomach, and intestine, where it is involved in transporting molecules across cell membranes.
The protein produced from the KCNQ1 gene interacts with proteins in the KCNE family (such as the KCNE1 protein) to form functional potassium channels. Four alpha subunits, each produced from the KCNQ1 gene, form the structure of each channel. One beta subunit, produced from a gene in the KCNE family, binds to the channel and regulates its activity.
Researchers believe that a molecule called PIP2 must bind to channels made with the KCNQ1 protein for the channels to function normally. PIP2 activates the ion channel and helps stabilize it when it is open, which allows ions to flow out of the cell.
Does the KCNQ1 gene share characteristics with other genes?
The KCNQ1 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 KCNQ1 gene related to health conditions?
Where is the KCNQ1 gene located?
Cytogenetic Location: 11p15.5
Molecular Location on chromosome 11: base pairs 2,466,220 to 2,870,339
The KCNQ1 gene is located on the short (p) arm of chromosome 11 at position 15.5.
More precisely, the KCNQ1 gene is located from base pair 2,466,220 to base pair 2,870,339 on chromosome 11.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNQ1?
You and your healthcare professional may find the following resources about KCNQ1 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 KCNQ1 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 KCNQ1?
acids ; amino acid ; arrhythmia ; atrial ; atrial fibrillation ; cardiac ; cardiac arrest ; cell ; cell membrane ; channel ; familial ; fibrillation ; gene ; glycine ; intestine ; ions ; ion transport ; kidney ; leucine ; long QT syndrome ; molecule ; mutation ; potassium ; protein ; psychotic ; serine ; stomach ; subunit ; syndrome ; voltage
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (17 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.