Full name: sodium channel, nonvoltage-gated 1 alpha

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: ENaC; SCNEA; Scnn1; mENaC

Summary: Enables WW domain binding activity and ligand-gated sodium channel activity. Contributes to sodium channel activity. Acts upstream of or within cellular response to aldosterone and sodium ion transport. Located in cytosol and external side of plasma membrane. Is integral component of membrane. Part of plasma membrane protein complex and sodium channel complex. Is expressed in several structures, including colon; heart; hindgut; liver; and lung. 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]

Expression: Biased expression in lung adult (RPKM 90.9), colon adult (RPKM 43.3) and 8 other tissues

Gene size: 30929bp

Exon count: 15