Aliases for SCNN1A Gene
External Ids for SCNN1A Gene
Previous HGNC Symbols for SCNN1A Gene
Previous GeneCards Identifiers for SCNN1A Gene
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]
GeneCards Summary for SCNN1A Gene
SCNN1A (Sodium Channel, Non Voltage Gated 1 Alpha Subunit) is a Protein Coding gene. Diseases associated with SCNN1A include pseudohypoaldosteronism, type i and bronchiectasis with or without elevated sweat chloride 2. Among its related pathways are Activation of cAMP-Dependent PKA and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include actin binding and sodium channel activity. An important paralog of this gene is SCNN1G.
UniProtKB/Swiss-Prot for SCNN1A Gene
Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception.