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Reviewed August 2008
What is the official name of the KCNA1 gene?
The official name of this gene is “potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia).”
KCNA1 is the gene's official symbol. The KCNA1 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 KCNA1 gene?
The KCNA1 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 KCNA1 gene provides instructions for making one part (the alpha subunit) of a potassium channel called Kv1.1. These channels are found in the brain, where they transport potassium ions into nerve cells (neurons). The flow of certain ions, including potassium, into and out of neurons regulates communication between these cells.
Does the KCNA1 gene share characteristics with other genes?
The KCNA1 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 KCNA1 gene related to health conditions?
Where is the KCNA1 gene located?
Cytogenetic Location: 12p13.32
Molecular Location on chromosome 12: base pairs 5,019,072 to 5,027,421
The KCNA1 gene is located on the short (p) arm of chromosome 12 at position 13.32.
More precisely, the KCNA1 gene is located from base pair 5,019,072 to base pair 5,027,421 on chromosome 12.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about KCNA1?
You and your healthcare professional may find the following resources about KCNA1 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 KCNA1 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 KCNA1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (9 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.