Aliases for CLCN6 Gene
External Ids for CLCN6 Gene
Previous GeneCards Identifiers for CLCN6 Gene
This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]
GeneCards Summary for CLCN6 Gene
CLCN6 (Chloride Channel, Voltage-Sensitive 6) is a Protein Coding gene. Diseases associated with CLCN6 include benign familial infantile epilepsy. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ion channel activity and voltage-gated chloride channel activity. An important paralog of this gene is CLCN7.
UniProtKB/Swiss-Prot for CLCN6 Gene
Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter