SCNN1G polyclonal antibody

The epithelial sodium channel (ENaC) is a member of the ENaC/DEG superfamily that is located on the apical surface of cells. ENaC mediates sodium reabsorption in kidney, distal colon, lung, ducts of exocrine glands and other organs. ENaC is formed by heteromultimerization of four homologous subunits, α, β, γ and δ. The most frequently formed heterotetramer consists of two α, one β, and one γ subunit, but the α subunit can be replaced by a ∂ subunit. The αENaC gene maps to human chromosome 12p13, and expresses a glycosylated protein. Both the β and γENaC genes map to human chromosome 16p12, and the γENaC transcript is detected as a glycosylated protein. The carboxy-terminus of all ENaC subunits contains PY motifs, which interact with the ubiquitin protein ligase, Nedd4, to regulate intracellular sodium concentrations. Gain-of-function mutations involving the PY motif cause Liddle’s syndrome, an autosomal dominant form of hypertension, resulting from excessive renal sodium absorption. Conversely, ENaC loss-of-function mutations result in pseudohypoaldosteronism type I, a disorder characterized by salt wasting and hypotension.