KCNE1 gene
potassium voltage-gated channel subfamily E regulatory subunit 1
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.
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Several mutations in the KCNE1 gene have been identified in people with Jervell and Lange-Nielsen syndrome. Affected people typically have mutations in both copies of the KCNE1 gene in each cell. These mutations change a single protein building block (amino acid) in the KCNE1 protein, which disrupts the protein's normal structure. An altered KCNE1 protein cannot regulate the flow of potassium ions through channels in the inner ear and cardiac muscle. This loss of channel function leads to the profound hearing loss and abnormal heart rhythm (arrhythmia) characteristic of Jervell and Lange-Nielsen syndrome.
More than 30 KCNE1 mutations are known to cause Romano-Ward syndrome. Usually, people with this condition have a mutation in only one copy of the KCNE1 gene in each cell. These mutations change a single amino acid in the KCNE1 protein, which alters the protein's ability to regulate potassium channels in cardiac muscle cells. A disruption in the flow of potassium ions out of these cells causes the irregular heartbeat found in Romano-Ward syndrome.
Certain drugs, including medications used to treat arrhythmias, infections, seizures, and psychotic disorders, can lead to an abnormal heart rhythm in some people. This drug-induced heart condition, which is known as acquired long QT syndrome, increases the risk of cardiac arrest and sudden death. A small percentage of cases of acquired long QT syndrome occur in people who have an underlying mutation in the KCNE1 gene.
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Cytogenetic Location: 21q22.12, which is the long (q) arm of chromosome 21 at position 22.12
Molecular Location: base pairs 34,446,688 to 34,512,275 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)
Related Information
- Delayed rectifier potassium channel subunit IsK
- IKs producing slow voltage-gated potassium channel beta subunit Mink
- ISK
- JLNS2
- KCNE1_HUMAN
- LQT5
- Minimal potassium channel
- minK
- potassium channel, voltage gated subfamily E regulatory beta subunit 1
- potassium voltage-gated channel, Isk-related family, member 1
Related Information
- Chiang CE. Congenital and acquired long QT syndrome. Current concepts and management. Cardiol Rev. 2004 Jul-Aug;12(4):222-34. Review.
- Ehmke H. Physiological functions of the regulatory potassium channel subunit KCNE1. Am J Physiol Regul Integr Comp Physiol. 2002 Mar;282(3):R637-8. Review.
- GeneReview: Jervell and Lange-Nielsen Syndrome
- GeneReview: Long QT Syndrome
- Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res. 2001 Sep;51(4):670-80.
- Lundquist AL, Manderfield LJ, Vanoye CG, Rogers CS, Donahue BS, Chang PA, Drinkwater DC, Murray KT, George AL Jr. Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol. 2005 Feb;38(2):277-87. Epub 2005 Jan 20.
- Lundquist AL, Turner CL, Ballester LY, George AL Jr. Expression and transcriptional control of human KCNE genes. Genomics. 2006 Jan;87(1):119-28. Epub 2005 Nov 21.
- McCrossan ZA, Abbott GW. The MinK-related peptides. Neuropharmacology. 2004 Nov;47(6):787-821. Review.
- Melman YF, Um SY, Krumerman A, Kagan A, McDonald TV. KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity. Neuron. 2004 Jun 24;42(6):927-37.
- Paulussen AD, Gilissen RA, Armstrong M, Doevendans PA, Verhasselt P, Smeets HJ, Schulze-Bahr E, Haverkamp W, Breithardt G, Cohen N, Aerssens J. Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 Mar;82(3):182-8. Epub 2004 Feb 4.
- Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med. 2001 Apr 1;110(5):385-98. Review.
- Tyson J, Tranebjaerg L, McEntagart M, Larsen LA, Christiansen M, Whiteford ML, Bathen J, Aslaksen B, Sørland SJ, Lund O, Pembrey ME, Malcolm S, Bitner-Glindzicz M. Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen. Hum Genet. 2000 Nov;107(5):499-503. Erratum in: Hum Genet 2001 Jan;108(1):75.
