Chloride channel 4 ( born chloride channel 4, CLC-4, CLCN4 ) - chloride channel - antiporter , one of the 9 chloride channels of the CLCN superfamily. Discovered in 1994. In humans, it is located on the X chromosome. Coded by the CLCN4 gene . [1] [2]
| Chloride Channel 4 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbol | ; CLC4; ClC-4; Clc-4a | ||||||||||||
| External IDs | IUPHAR : GeneCards : | ||||||||||||
| |||||||||||||
| RNA expression profile | |||||||||||||
 | |||||||||||||
 | |||||||||||||
| Orthologists | |||||||||||||
| View | Person | Mouse | |||||||||||
| Entrez | |||||||||||||
| Ensembl | |||||||||||||
| Uniprot | |||||||||||||
| RefSeq (mRNA) | |||||||||||||
| RefSeq (protein) | |||||||||||||
| Locus (UCSC) | |||||||||||||
| Search PubMed | |||||||||||||
Structure and Functions
Protein CLC-4 includes 760 amino acids, 10 transmembrane domains. Both N- and C-terminal domains are located in the cytoplasm . The cell is localized in the early and late endosomes . It functions as a potential-dependent chloride channel. The channel exchanges chlorine ions Cl - for hydrogen ions H + . Most highly expressed in skeletal muscle , also found in the brain and heart . The exact physiological role remains unknown, but it is assumed to be related to the development of neural disorders.
Clinical Importance
Mutations in this gene are associated with the development of epilepsy [3]
Links
- ↑ van Slegtenhorst MA, Bassi MT, Borsani G., Wapenaar MC, Ferrero GB, de Conciliis L., Rugarli EI, Grillo A., Franco B., Zoghbi HY, Ballabio A. A gene from the Xp22.3 region shares homology with voltage-gated chloride channels (Eng.) // Human Molecular Genetics : journal. - Oxford University Press , 1994 .-- September ( vol. 3 , no. 4 ). - P. 547–552 . - DOI : 10.1093 / hmg / 3.4.547 . - PMID 8069296 .
- ↑ Entrez Gene: CLCN4 chloride channel 4 .
- ↑ Veeramah KR, Johnstone L., Karafet TM, Wolf D., Sprissler R., Salogiannis J., Barth-Maron A., Greenberg ME, Stuhlmann T., Weinert S., Jentsch TJ, Pazzi M., Restifo LL, Talwar D., Erickson RP, Hammer MF Exome sequencing reveals new causal mutations in children with epileptic encephalopathies (English) // Epilepsia: journal. - 2013 .-- Vol. 54 , no. 7 . - P. 1270-1281 . - DOI : 10.1111 / epi.12201 . - PMID 23647072 .