Scnn1a - sodium channel epithelial 1 subunit alpha

Enables WW domain binding activity; actin binding activity; and ligand-gated sodium channel activity. Contributes to sodium ion transmembrane transporter activity. Involved in regulation of body fluid levels and sodium ion transport. Located in several cellular components, including acrosomal vesicle; apical plasma membrane; and sperm principal piece. Used to study nephrotic syndrome. Human ortholog(s) of this gene implicated in Liddle syndrome; autosomal recessive pseudohypoaldosteronism type 1; bronchiectasis 2; and pseudohypoaldosteronism. Orthologous to human SCNN1A (sodium channel epithelial 1 subunit alpha). [provided by Alliance of Genome Resources, Apr 2022]