Disease-gene associations mined from literature

Literature associating CLCN5 and megalencephalic leukoencephalopathy with subcortical cysts

CLCN5 [ENSP00000365256]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM