DISEASES

Disease-gene associations mined from literature

Literature on CLIC5

CLIC5 [ENSP00000185206]

Chloride intracellular channel protein 5; Required for normal hearing. It is necessary for the formation of stereocilia in the inner ear and normal development of the organ of Corti (By similarity). Can insert into membranes and form poorly selective ion channels that may also transport chloride ions. May play a role in the regulation of transepithelial ion absorption and secretion. Is required for the development and/or maintenance of the proper glomerular endothelial cell and podocyte architecture.

Synonyms:  CLIC5,  CLIC5p,  hCLIC5,  Q53G01,  Q9NZA1 ...

Linkouts:  STRING  Pharos  UniProt  OMIM