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Genetics Home Reference: your guide to understanding genetic conditions
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KCN gene family

Reviewed May 2011

What are the KCN genes?

Genes in the KCN family provide instructions for making potassium channels. These channels transport positively charged potassium atoms (potassium ions) into and out of cells. Potassium channels play key roles in a cell's ability to generate and transmit electrical signals.

Potassium channels are made up of several protein components (subunits), each of which is produced from a particular gene. Each channel includes four α (alpha) subunits, which are usually identical, and several β (beta) subunits. The α subunits form the hole (pore) through which potassium ions can flow. The β subunits help regulate the channel's function and interact with various proteins inside and outside the cell.

Potassium channels are the most diverse of all the body's ion channels. They have critical functions in many different tissues. In the nervous system, these channels help determine the electrical charge of nerve cells (neurons) and play important roles in communication between these cells. Potassium channels in the inner ear maintain a balance of ions necessary for hearing. In heart (cardiac) muscle, potassium channels are involved in recharging the muscle after each contraction to maintain a regular heartbeat. In muscles used for movement (skeletal muscles), potassium channels play a role in the pattern of muscle tensing (contraction) and relaxation that allows the body to move.

Mutations in KCN genes are associated with several disorders affecting the nervous system, heart, and muscles. Altered potassium channel function in the nervous system can lead to episodic ataxia (a condition characterized by episodes of poor coordination and balance), a muscle disorder called myokymia, and rare forms of epilepsy. Changes in potassium channels in the inner ear likely contribute to hearing loss. In the heart, abnormal potassium channel function causes several diseases characterized by abnormal heart rhythms (arrhythmias). Changes in potassium channels in skeletal muscle cells are associated with episodes of paralysis as part of a condition called Andersen-Tawil syndrome.

Which genes are included in the KCN gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the KCN family (http://www.genenames.org/genefamily/kcn.php).

Genetics Home Reference summarizes the normal function and health implications of these members of the KCN gene family: KCNA1, KCNE1, KCNE2, KCNH2, KCNJ1, KCNJ2, KCNJ5, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, and KCNT1.

What conditions are related to genes in the KCN gene family?

Genetics Home Reference includes these conditions related to genes in the KCN gene family:

  • Andersen-Tawil syndrome
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Bartter syndrome
  • benign familial neonatal seizures
  • congenital hyperinsulinism
  • episodic ataxia
  • familial atrial fibrillation
  • familial hyperaldosteronism
  • Jervell and Lange-Nielsen syndrome
  • malignant migrating partial seizures of infancy
  • nonsyndromic deafness
  • permanent neonatal diabetes mellitus
  • Romano-Ward syndrome
  • short QT syndrome

Where can I find additional information about the KCN gene family?

You may find the following resources about the KCN gene family helpful.

  • Neuromuscular Disease Center, Washington University: Potassium Channels (http://neuromuscular.wustl.edu/mother/chan.html)
  • Voltage-gated Potassium Channel Database (VKCDB) (http://vkcdb.biology.ualberta.ca/)
  • Voltage-Gated K+ Channels: University of Illinois at Urbana-Champaign (http://www.ks.uiuc.edu/Research/kvchannel/)
  • Biochemistry (fifth edition, 2002): Specific Channels Can Rapidly Transport Ions Across Membranes (http://www.ncbi.nlm.nih.gov/books/NBK22509/) (U.S. National Library of Medicine)

What glossary definitions help with understanding the KCN gene family?

ataxia ; cardiac ; cell ; channel ; contraction ; epilepsy ; gene ; ions ; muscle cells ; nervous system ; potassium ; protein ; skeletal muscle ; syndrome ; voltage

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the KCN gene family.

  • Yellen G. The voltage-gated potassium channels and their relatives. Nature. 2002 Sep 5;419(6902):35-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12214225?dopt=Abstract)
  • Gutman GA, Chandy KG, Grissmer S, Lazdunski M, McKinnon D, Pardo LA, Robertson GA, Rudy B, Sanguinetti MC, Stühmer W, Wang X. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. Pharmacol Rev. 2005 Dec;57(4):473-508. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16382104?dopt=Abstract)
  • Lehmann-Horn F, Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev. 1999 Oct;79(4):1317-72. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10508236?dopt=Abstract)

 

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.

 
Reviewed: May 2011
Published: August 18, 2014