DISEASES

Disease-gene associations mined from literature

Literature associating CLCN6 and benign familial infantile epilepsy

CLCN6 [ENSP00000234488]

Chloride channel, voltage-sensitive 6; Chloride transport protein, initially identified as voltage-gated chloride channel. The presence of the conserved gating glutamate residues suggests that is functions as antiporter; Belongs to the chloride channel (TC 2.A.49) family. ClC-6/CLCN6 subfamily.

Synonyms:  CLCN6,  CLCN6p,  hCLCN6,  CLCN6-001,  CLCN6-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM