SCNN1B è un gene codificato dal simbolo SCNN1B. È noto anche come: Amiloride-sensitive sodium channel subunit beta; Beta-NaCH; Epithelial Na(+) channel subunit beta; Beta-ENaC; Nonvoltage-gated sodium channel 1 subunit beta; SCNEB. SCNN1B ha una massa di 72.66kDa, una lunghezza di amminoacidi di 640, ed è implicato nella malattia: Pseudohypoaldosteronism 1, autosomal recessive; Liddle syndrome 1; Bronchiectasis with or without elevated sweat chloride 1.
Offriamo 7 anticorpi contro SCNN1B, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo, Ratto, Criceto e Xenopus.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
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.
Specificità del tessuto
Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244).
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1B subfamily.
Modifica post-translazionale
Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation.
Posizione cellulare
Apical cell membrane. Cytoplasmic vesicle membrane.
Apical membrane of epithelial cells.
