Literature associating CLCN5 and megalencephalic leukoencephalopathy with subcortical cysts
Chloride channel, voltage-sensitive 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function; Belongs to the chloride channel (TC 2.A.49) family. ClC-5/CLCN5 subfamily.
Synonyms: CLCN5, CLCN5p, hCLCN5, P51795, V9GYG7 ...