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 four parts, called alpha subunits, which are produced from the KCNQ1 gene. 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 the heart, the channels are involved in recharging the cardiac muscle after each heartbeat to maintain a regular rhythm. The KCNE1 protein is also produced in the kidneys, testes, and uterus, where it probably regulates the activity of other channels.
Other Names
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 Genetics Topics
Identifiers
- NCBI Gene: 3753
- OMIM: 176261
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
