| Entrez Gene ID |
1183 (NCBI Gene) |
| Official Gene Symbol |
CLCN4 (GeneCards) |
| Number of variants in CLCN4 in this database |
1 (view all the variants) |
| Full name |
chloride voltage-gated channel 4 |
| Band |
Xp22.2 |
| Other IDs |
Vega:
OTTHUMG00000021125
OMIM:
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] |