Disease-gene associations mined from literature

Literature associating CLCN7 and Noonan syndrome with multiple lentigines 2

CLCN7 [ENSP00000372193]

H(+)/Cl(-) exchange transporter 7; Slowly voltage-gated channel mediating the exchange of chloride ions against protons. Functions as antiporter and contributes to the acidification of the lysosome lumen. ; Belongs to the chloride channel (TC 2.A.49) family. ClC- 7/CLCN7 subfamily.

Synonyms:  CLCN7,  CLCN7p,  hCLCN7,  H0Y2M6,  H3BNG8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM