DISEASES

Disease-gene associations mined from literature

Literature associating CLIC2 and early infantile epileptic encephalopathy 8

CLIC2 [ENSP00000358460]

Chloride intracellular channel protein 2; Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions. Modulates the activity of RYR2 and inhibits calcium influx.

Synonyms:  CLIC2,  CLIC2p,  hCLIC2,  A6PVS0,  O15247 ...

Linkouts:  STRING  Pharos  UniProt  OMIM