Species Human Entrez 1183 | Human Mouse Ensembl ENSG00000073464 | |
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Aliases CLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4 External IDs MGI: 104571 HomoloGene: 68207 GeneCards: CLCN4 | ||
H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.
Contents
Function
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.
Clinical significance
Mutations in this gene have been linked to cases of early onset epilepsy