Gene Symbol | CLCN4 |
Entrez Gene ID | 1183 |
Full Name | chloride voltage-gated channel 4 |
Synonyms | CLC4,ClC-4,ClC-4A,MRX15,MRX49 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked 49/15, 300114 (3) |