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 Voltage-Gated Channel 6) is a Protein Coding gene. Diseases associated with CLCN6 include Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities and Neurogenic Bladder. Among its related pathways are Ion channel transport and Activation of cAMP-Dependent PKA. Gene Ontology (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 Summary 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.