KCNE1
KCNE1 (pronounced "kay-see-nee-one") is a gene that provides instructions for making a protein that plays a crucial role in the body's cells. The KCNE1 protein is a part of a family of proteins that form channels across the cell membrane. These channels, which include the potassium channel, regulate the flow of ions into and out of cells.
Etymology
The term "KCNE1" is an abbreviation for "Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1". The name reflects the gene's role in producing a protein that regulates the activity of a specific type of potassium channel.
Function
The KCNE1 protein is a beta subunit that helps form potassium channels in many of the body's cells. These channels transport potassium ions across cell membranes, which is essential for maintaining the normal function of cells. The KCNE1 protein specifically regulates the KCNQ1 channel, affecting how it responds to changes in cell volume, pH, and other factors.
Related Terms
- Potassium Channel: A type of protein that allows potassium ions to pass through cell membranes.
- Ion Channel: A complex of protein molecules in a cell's membrane that form a pore through which ions can pass.
- Cell Membrane: The semipermeable membrane surrounding the cytoplasm of a cell.
- KCNQ1: A gene that provides instructions for making a protein that forms a channel across the cell membrane.
Health Relevance
Mutations in the KCNE1 gene can lead to conditions such as Long QT Syndrome and Jervell and Lange-Nielsen Syndrome. These conditions can cause heart rhythm disorders that can result in fainting, seizures, or sudden death.
See Also
External links
- Medical encyclopedia article on KCNE1
- Wikipedia's article - KCNE1
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