Full name: sodium channel epithelial 1 subunit alpha

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: BESC2; ENaCa; ENaCalpha; LIDLS3; PHA1B1; SCNEA; SCNN1

Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the alpha subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2009]

Expression: Broad expression in kidney (RPKM 50.6), colon (RPKM 38.2) and 15 other tissues

Gene size: 30513bp

Exon count: 14