Aliases for CLCN4 Gene
External Ids for CLCN4 Gene
Previous GeneCards Identifiers for CLCN4 Gene
The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]
GeneCards Summary for CLCN4 Gene
CLCN4 (Chloride Voltage-Gated Channel 4) is a Protein Coding gene. Diseases associated with CLCN4 include epileptic encephalopathy, early infantile, 18 and ocular albinism. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Hepatic ABC Transporters. GO annotations related to this gene include ion channel activity and antiporter activity. An important paralog of this gene is CLCN7.
UniProtKB/Swiss-Prot for CLCN4 Gene
Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons.