Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
KCNT1

KCNT1

Reviewed March 2014

What is the official name of the KCNT1 gene?

The official name of this gene is “potassium channel, subfamily T, member 1.”

KCNT1 is the gene's official symbol. The KCNT1 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 KCNT1 gene?

The KCNT1 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 KCNT1 protein are active in nerve cells (neurons) in the brain, where they transport potassium ions out of cells. This flow of ions is involved in generating currents to activate (excite) neurons and send signals in the brain.

Potassium channels are made up of several protein components (subunits). Each channel contains four alpha subunits that form the hole (pore) through which potassium ions move. Four alpha subunits from the KCNT1 gene can form a channel. The KCNT1 alpha subunits can also interact with alpha subunits produced from the KCNT2 gene to form a functional potassium channel.

Researchers have determined that a molecule called PKC can turn on channels made with the KCNT1 protein. While the channels can generate electrical currents without PKC, when PKC turns the channel on, the currents are stronger.

Does the KCNT1 gene share characteristics with other genes?

The KCNT1 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 KCNT1 gene related to health conditions?

malignant migrating partial seizures of infancy - caused by mutations in the KCNT1 gene

At least six KCNT1 gene mutations have been found in individuals with malignant migrating partial seizures of infancy (MMPSI). This condition is characterized by recurrent seizures beginning before the age of 6 months as well as profound developmental delay. In MMPSI, seizure activity in the brain can spread (migrate) from one region to another during an episode.

The KCNT1 gene mutations involved in MMPSI change single protein building blocks (amino acids) in the KCNT1 protein. The electrical currents generated by potassium channels made with the altered KCNT1 protein are abnormally increased, as though the channels were turned on by PKC. The increased electrical currents allow unregulated excitation of neurons in the brain. When neurons are abnormally excited, seizures develop. Repeated seizures contribute to the developmental delay that is characteristic of this condition.

other disorders - associated with the KCNT1 gene

Mutations in the KCNT1 gene have been found in several people with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), which causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. In addition to seizures, most affected individuals with KCNT1 gene mutations have psychiatric problems, such as aggression, episodes of unresponsiveness (catatonia), or a distorted view of reality (psychosis), and about half have intellectual disability. The KCNT1 gene mutations involved in this condition change single amino acids in the KCNT1 protein; however, it is unclear what effects these changes have on the function of potassium channels or how they lead to the features of ADNFLE.

Genetics Home Reference provides information about autosomal dominant nocturnal frontal lobe epilepsy, which is also associated with changes in the KCNT1 gene.

Where is the KCNT1 gene located?

Cytogenetic Location: 9q34.3

Molecular Location on chromosome 9: base pairs 135,702,184 to 135,793,146

The KCNT1 gene is located on the long (q) arm of chromosome 9 at position 34.3.

The KCNT1 gene is located on the long (q) arm of chromosome 9 at position 34.3.

More precisely, the KCNT1 gene is located from base pair 135,702,184 to base pair 135,793,146 on chromosome 9.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about KCNT1?

You and your healthcare professional may find the following resources about KCNT1 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 KCNT1 gene or gene products?

  • EIEE14
  • ENFL5
  • KCa4.1
  • KCNT1_HUMAN
  • KIAA1422
  • potassium channel subfamily T member 1
  • SLACK

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 KCNT1?

acids ; autosomal ; autosomal dominant ; cell ; channel ; developmental delay ; disability ; epilepsy ; gene ; ions ; molecule ; nocturnal ; potassium ; protein ; psychosis ; seizure ; sodium

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 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.

 
Reviewed: March 2014
Published: December 16, 2014