SCNN1B ist ein Gen, das durch das Symbol SCNN1B kodiert wird. Es ist auch bekannt als: Amiloride-sensitive sodium channel subunit beta; Beta-NaCH; Epithelial Na(+) channel subunit beta; Beta-ENaC; Nonvoltage-gated sodium channel 1 subunit beta; SCNEB. SCNN1B hat eine Masse von 72.66kDa, eine Aminosäurelänge von 640, und ist an folgenden Krankheiten beteiligt: Pseudohypoaldosteronism 1, autosomal recessive; Liddle syndrome 1; Bronchiectasis with or without elevated sweat chloride 1.
Wir bieten 7 antikörper gegen SCNN1B, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus, Ratte, Hamster und Xenopus.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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 beta subunit, and mutations in this gene have been associated with pseudohypoaldosteronism type 1 (PHA1), and Liddle syndrome.
Gewebespezifität
Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).
Rolle bei Krankheiten
Pseudohypoaldosteronism 1, autosomal recessive: A rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1B is a severe form involving multiple organ systems, and characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
Liddle syndrome 1: A form of Liddle syndrome, an autosomal dominant disorder characterized by early onset of hypertension, hypokalemic alkalosis, and suppression of plasma renin activity and aldosterone secretion.
Bronchiectasis with or without elevated sweat chloride 1: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.
Sequenzähnlichkeiten
Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
Posttranslationale Modifikation
Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
Zellort
Apical cell membrane. Cytoplasmic vesicle membrane.
Apical membrane of epithelial cells.
