SCNN1A Antibody

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.