FEATURES

FAMILY

amiloride-sensitive sodium channel (TC 1.A.6) family

DESCRIPTION

Also known as SCNNG_HUMAN, SCNN1G. 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. Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (PubMed:7762608). Interacts with NEDD4; via the WW domains (PubMed:11244092, PubMed:12167593). Interacts with NEDD4L; via the WW domains (PubMed:11244092). Interacts with WWP1; via the WW domains (PubMed:9169421). Interacts with WWP2; via the WW domains (PubMed:9169421, PubMed:12167593). Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (PubMed:22493497).

EXTERNAL LINKS

SCNN1G

Mutations

Mutation(s) distribution

Mutations table