{"symbol":"CLCN4","synonyms":["CLC-4","MRX15","CLC-4A","CLC4","MRX49"],"name":"chloride channel, voltage-sensitive 4","description":"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]","ncbiEntrezGeneId":1183,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1183","proteins":[{"symbol":"CLCN4_HUMAN","href":"/api/1.0/protein/CLCN4_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}