DISEASES

Disease-gene associations mined from literature

Literature associating CLCN5 and X-linked recessive disease

CLCN5 [ENSP00000365256]

H(+)/Cl(-) exchange transporter 5; Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function; Belongs to the chloride channel (TC 2.A.49) family. ClC- 5/CLCN5 subfamily.

Synonyms:  CLCN5,  CLCN5p,  hCLCN5,  A0A2R8Y6C4,  A0A2R8YF14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM