Disease-gene associations mined from literature

Literature associating SCNN1B and apparent mineralocorticoid excess syndrome

SCNN1B [ENSP00000345751]

Sodium channel, non-voltage-gated 1, beta 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; Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.

Synonyms:  SCNN1B,  SCNN1Bp,  hSCNN1B,  B2R812,  H3BQ95 ...

Linkouts:  STRING  Pharos  UniProt  OMIM