CLCN2 : chloride voltage-gated channel 2
Description
The CLCN2 (chloride voltage-gated channel 2) is a protein-coding gene located on chromosome 3.
The CLCN2 gene is part of the CLC family of genes that provide instructions for making chloride channels. These channels transport negatively charged chlorine atoms (chloride ions) and are essential for cell function, particularly in generating and transmitting electrical signals. Some chloride channels regulate chloride ion flow across cell membranes, while others transport chloride ions within cells. CLCN2 specifically produces the ClC-2 chloride channel, which is found in the outer membrane of most cells. It facilitates chloride ion transport in and out of cells, with a particularly important role in neurons in the brain. ClC-2 regulates neuron size (volume) by controlling water intake and release, and maintaining a balanced ion concentration within cells.
Voltage-gated chloride channel. Chloride channels are crucial for a variety of cellular functions, including regulating cell volume, stabilizing membrane potential, transmitting signals, and transporting substances across epithelial cells. CLCN2 is involved in the production of aldosterone, a hormone that regulates blood pressure. When CLCN2 channels open at hyperpolarized membrane potentials in the glomerulosa cells of the adrenal gland, the cell membrane depolarizes, activating voltage-gated calcium channels. This leads to increased expression of aldosterone synthase, the enzyme responsible for the production of aldosterone.
CLCN2 is also known as CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, FHA2, FHII, HALD2, LKPAT, clC-2.
Associated Diseases
- Hyperaldosteronism, familial, type II
- Juvenile myoclonic epilepsy
- Familial hyperaldosteronism type II
- Leukoencephalopathy with ataxia
- Epilepsy with grand mal seizures on awakening
- CLCN2-related leukoencephalopathy
