The scnn1a protein functions as an epithelial sodium channel subunit, forming a membrane-bound ion channel involved in sodium reabsorption. In the skin, it facilitates sodium uptake across the epitheli...[+]

The scnn1a protein functions as an epithelial sodium channel subunit, forming a membrane-bound ion channel involved in sodium reabsorption. In the skin, it facilitates sodium uptake across the epithelium from environmental water. Its expression is also detected in the kidney, pronephros, and gastrointestinal tract where it contributes to ionic balance. The protein localizes to the apical plasma membrane of epithelial cells. [-]

             autosomal recessive pseudohypoaldosteronism type 1
             bronchiectasis

          BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2; BESC2
          LIDDLE SYNDROME 3; LIDLS3

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD