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 Raynaud-Claes Syndrome and Clcn4-Related X-Linked Intellectual Disability Syndrome. 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 antiporter activity. An important paralog of this gene is CLCN5.
UniProtKB/Swiss-Prot Summary for CLCN4 Gene
Strongly outwardly rectifying, electrogenic H(+)/Cl(-)exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:28972156, PubMed:23647072, PubMed:27550844, PubMed:25644381). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874). The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).