DISEASES

Disease-gene associations mined from literature

Literature associating SCNN1G and autosomal dominant pseudohypoaldosteronism type 1

SCNN1G [ENSP00000300061]

Sodium channel, non-voltage-gated 1, gamma subunit; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.

Synonyms:  SCNN1G,  SCNN1Gp,  hSCNN1G,  A5X2V1,  P51170 ...

Linkouts:  STRING  Pharos  UniProt  OMIM