{"symbol":"SCNN1A","synonyms":["ENACALPHA","BESC2","ENACA","SCNN1","LIDLS3","SCNEA"],"name":"sodium channel, non voltage gated 1 alpha subunit","description":"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]","ncbiEntrezGeneId":6337,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6337","proteins":[{"symbol":"SCNNA_HUMAN","href":"/api/1.0/protein/SCNNA_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}