Disease-gene associations mined from literature

Literature associating CLCNKB and EAST syndrome

CLCNKB [ENSP00000364831]

Chloride channel, voltage-sensitive Kb; Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms; Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily.

Synonyms:  CLCNKB,  P51801,  Q5T5Q6,  P51801p,  hP51801 ...

Linkouts:  STRING  Pharos  UniProt  OMIM