SCNN1A Antibody – Rabbit Polyclonal

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]

ENaC-alpha: 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. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Probable heterotrimer containing one alpha, one beta and one gamma subunit. A delta subunit can replace the alpha subunit. Interacts with the WW domains of NEDD4, NEDD4L, WWP1 and WWP2. By aldosterone. Highly expressed in kidney and lung. Detected at intermediate levels in pancreas and liver, and at low levels in heart and placenta. Isoform 1 and isoform 2 predominate in all tissues. Expression of isoform 3, isoform 4 and isoform 5 is very low or not detectable, except in lung and heart. Activated by WNK1, WNK2, WNK3 and WNK4. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1A subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Transporter, ion channel; Membrane protein, integral; Channel, sodium; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 12p13

Cellular Component: cortical actin cytoskeleton; integral to plasma membrane; apical plasma membrane; plasma membrane; cytosol; external side of plasma membrane

Molecular Function: amiloride-sensitive sodium channel activity; protein binding; WW domain binding; actin binding

Biological Process: sensory perception of taste; response to stimulus; sodium ion transport; sodium ion homeostasis; multicellular organismal water homeostasis; excretion; transmembrane transport

Disease: Bronchiectasis With Or Without Elevated Sweat Chloride 2; Pseudohypoaldosteronism, Type I, Autosomal Recessive