Rabbit anti-Human SCNN1A Polyclonal Antibody

Uniprot Id

P37088

Target Species

Human

Target Name

SCNN1A

Target Full Name

Epithelial sodium channel subunit alpha

Target Function

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 eccrine sweat glands. Also plays a role in taste perception.

Target Involvement

Pseudohypoaldosteronism 1, autosomal recessive (PHA1B); Bronchiectasis with or without elevated sweat chloride 2 (BESC2)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Cell projection, cilium. Cytoplasmic granule. Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Cell projection, cilium, flagellum.

Target Protein Families

Amiloride-sensitive sodium channel (TC 1.A.6) family, SCNN1A subfamily

Target Tissue Specificity

Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchial epithelium (at protein level). High

Target Synonyms

Alpha ENaC 2; Alpha ENaC; Alpha NaCH; Alpha-ENaC; Alpha-NaCH; Amiloride sensitive epithelial sodium channel alpha subunit; Amiloride sensitive sodium channel subunit alpha; Amiloride-sensitive sodium channel subunit alpha; ENaCA; ENaCalpha; Epithelial Na(+) channel subunit alpha; Epithelial Na+ channel subunit alpha; FLJ21883; Nonvoltage gated sodium channel 1 subunit alpha; Nonvoltage-gated sodium channel 1 subunit alpha; SCNEA; SCNN 1; SCNN1; Scnn1a; SCNNA_HUMAN; Sodium channel nonvoltage gated 1 alpha

Target Background

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.