Structural highlights
Disease
CLCN6_HUMAN CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
CLCN6_HUMAN Voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the late endosome lumen. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.[1]
References
- ↑ Neagoe I, Stauber T, Fidzinski P, Bergsdorf EY, Jentsch TJ. The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. J Biol Chem. 2010 Jul 9;285(28):21689-97. PMID:20466723 doi:10.1074/jbc.M110.125971
