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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.
Gene Name: | chloride channel, voltage-sensitive 4 |
Family/Subfamily: | Ion Channel , Chloride channel - CLC |
Synonyms: | CLCN4, ClC-4, Chloride channel 4, Chloride channel protein 4, Chloride transporter ClC-4, ClC-4A, CLC4 |
Target Sequences: | NM_001830 NP_001821.2 P51793 |
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