SCNN1A, Official Symbol SCNN1Aprovided by HGNC Official Full Name sodium channel epithelial 1 subunit alphaprovided by HGNC Primary source HGNC:HGNC:10599 See related Ensembl:ENSG00000111319 MIM:600228; AllianceGenome:HGNC:10599 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BESC2; ENaCa; SCNEA; SCNN1; LIDLS3; PHA1B1; ENaCalpha 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 See more Orthologs mouse all