Aliases:This biomarker is also known as:
- Amiloride-sensitive sodium channel subunit alpha,
- sodium channel, nonvoltage-gated 1 alpha,
- Epithelial Na(+) channel subunit alpha,
- Nonvoltage-gated sodium channel 1 subunit alpha,
SCNN1A, a multi-pass membrane protein belonging to the amiloride-sensitive sodium channel family, is a sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma; the SCNN1A gene encodes the alpha subunit. SCNN1A mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. It controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. It is highly expressed in kidney and lung, detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Defects in SCNN1A are a cause of autosomal recessive pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids.
|QA State:||Under Review|
There are no datasets associated with this biomarker.