potassium voltage-gated channel subfamily Q member 1
Dernière mise à jour 18 Aug 2020
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La 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 out of cells, play key roles in a cell's ability to generate and transmit electrical signals.
Normal function
La 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 out of cells, play key roles 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 KCNQ1 proteins are primarily found in the inner ear and in heart (cardiac) muscle. 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.
The KCNQ1 protein interacts with proteins in the KCNE family (such as the KCNE1 protein) to form functional potassium channels. Four alpha subunits made from KCNQ1 proteins form the structure of each channel. One beta subunit, made from a KCNE protein, attaches (binds) to the channel and regulates its activity.
Conditions referring to this gene or chromosome
Other names
ATFB1
IKs producing slow voltage-gated potassium channel alpha subunit KvLQT1
JLNS1
KCNA8
KCNA9
KCNQ1_HUMAN
KQT-like 1
Kv1.9
Kv7.1
KVLQT1
LQT1
potassium channel, voltage gated KQT-like subfamily Q, member 1
potassium voltage-gated channel, KQT-like subfamily, member 1
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Lectures complémentaires et références
- potassium voltage-gated channel subfamily Q member 1; MedlinePlus, National Library of Medicine.
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- Ioakeimidis NS, Papamitsou T, Meditskou S, Iakovidou-Kritsi Z. Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence. J Biol Res (Thessalon). 2017 Mar 14;24:6. doi: 10.1186/s40709-017-0063-1. eCollection 2017 Dec.
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- Park KH, Piron J, Dahimene S, Merot J, Baro I, Escande D, Loussouarn G. Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome. Circ Res. 2005 Apr 15;96(7):730-9. doi: 10.1161/01.RES.0000161451.04649.a8. Epub 2005 Mar 3.
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- Wang Z, Li H, Moss AJ, Robinson J, Zareba W, Knilans T, Bowles NE, Towbin JA. Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome. Mol Genet Metab. 2002 Apr;75(4):308-16. doi: 10.1016/S1096-7192(02)00007-0.
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