CLCN4


H/Cl exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.

Function

The CLCN family of voltage-dependent chloride channel genes comprises nine members 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 and OA1, 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