| Entrez Gene ID | 1183 |
|---|---|
| Official Gene Symbol | CLCN4 (GeneCards) |
| Full name | chloride voltage-gated channel 4 |
| Location | Xp22.2 |
| Other ids | Vega : OTTHUMG00000021125 MIM : 302910 HGNC : HGNC:2022 Ensembl : ENSG00000073464 |
| Other names | CLC4, ClC-4, MRX15, MRX49, ClC-4A |
| Summary | 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] |