Description
Product Characteristics: FUNCTION: 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. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. SUBUNIT: Heterotetramer of two alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. SUBCELLULAR LOCATION: Apical cell membrane, Multi-pass membrane protein. Note: Apical membrane of epithelial cells. PTM: Phosphorylated on serine and threonine residues. PTM: Ubiquitinated, this targets individual subunits for endocytosis and proteasome-mediated degradation. DISEASE: Defects in SCNN1G are a cause of Liddle syndrome. It is an autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis. The disease is caused by constitutive activation of the renal epithelial sodium channel.,SCNN Channels,Amiloride-sensitive sodium channel subunit gamma (SCNN1G, SCNEG), Epithelial Na(+) channel subunit gamma, Gamma-ENaC, Gamma-NaCH, PHA1, ENaCg, SCNEG, ENaCgamma
Target Information: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the gamma subunit, and mutations in this gene have been associated with Liddle syndrome. [provided by RefSeq, Apr 2009]