CLCN4
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[1][2]
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.[2]
Clinical significance
Mutations in this gene have been linked to cases of early onset epilepsy[3]
See also
References
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External links
- CLCN4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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