Disease-gene associations mined from literature

Literature associating CLCN1 and familial periodic paralysis

CLCN1 [ENSP00000339867]

Chloride channel protein, skeletal muscle; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport; Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily.

Synonyms:  CLCN1,  CLCN1p,  hCLCN1,  P35523,  Q75L28 ...

Linkouts:  STRING  Pharos  UniProt  OMIM