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 (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
The CpG sites or CG sites are regions of DNA where a cytosine nucleotide is followed by a guanine nucleotide in the linear sequence of bases along its 5' → 3' direction. CpG sites occur with high frequency in genomic regions called CpG isl ...
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
See also
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Chloride channel
References
Further reading
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External links
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Ion channels
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