The CLCN2 gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell’s ability to generate and transmit electrical signals. Some chloride channels regulate the flow of chloride ions across cell membranes, while others transport chloride ions within cells.
The CLCN2 gene provides instructions for making a chloride channel called ClC-2. These channels are embedded within the outer membrane of most cells, and they transport chloride ions in and out of cells. The channel’s function is thought to be particularly important in nerve cells (neurons) in the brain. The ClC-2 channel regulates the size (volume) of neurons by playing a role in the intake and release of water as well as maintaining a normal balance of ions in cells.
Other Names
chloride channel 2; chloride channel, voltage-sensitive 2; CIC-2; clC-2; CLC2; ECA2; ECA3; EGI11; EGI3; EGMA; EJM6; EJM8; LKPAT
Related Genetics Topics
- Juvenile myoclonic epilepsy — MedlinePlus Genetics
- CLCN2-related leukoencephalopathy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 1181
- OMIM: 600570
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
