chloride voltage-gated channel 2
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A 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.
Normal function
A 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.
A 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.
Conditions referring to this gene or chromosome
Other names
chloride channel 2
chloride channel, voltage-sensitive 2
CIC-2
clC-2
CLC2
ECA2
ECA3
EGI11
EGI3
EGMA
EJM6
EJM8
LKPAT
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Leitura adicional e referências
- chloride voltage-gated channel 2; MedlinePlus, National Library of Medicine.
- Gaitan-Penas H, Apaja PM, Arnedo T, Castellanos A, Elorza-Vidal X, Soto D, Gasull X, Lukacs GL, Estevez R. Leukoencephalopathy-causing CLCN2 mutations are associated with impaired Cl- channel function and trafficking. J Physiol. 2017 Nov 15;595(22):6993-7008. doi: 10.1113/JP275087. Epub 2017 Oct 9.
- Stolting G, Fischer M, Fahlke C. CLC channel function and dysfunction in health and disease. Front Physiol. 2014 Oct 7;5:378. doi: 10.3389/fphys.2014.00378. eCollection 2014.
- Wang H, Xu M, Kong Q, Sun P, Yan F, Tian W, Wang X. Research and progress on ClC‑2 (Review). Mol Med Rep. 2017 Jul;16(1):11-22. doi: 10.3892/mmr.2017.6600. Epub 2017 May 18.
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