Anti-SCNN1A

0.5mg/ml if reconstituted with 0.2ml sterile DI water. The SCNN1A gene encodes the alpha subunit of the epithelial sodium channel (ENaC), a constitutively active channel that allows the flow of sodium ions from the lumen into epithelial cells across the apical cell membrane. The ENaC channel, which is regulated by the renin-angiotensin-aldosterone system, has a central role in the regulation of extracellular fluid volume and blood pressure. The other subunits are encoded by the beta (SCNN1B), gamma (SCNN1G), and delta (SCNN1D) genes. This SCNN1A gene is mapped to 12p13.31. Mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Protein 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. 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 eccrine sweat glands. Also plays a role in taste perception. [The UniProt Consortium]