SCNN1B Polyclonal Antibody, Invitrogen™

Description

• Antibody detects endogenous levels of total SCNN1B
• 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
• Heterotetramer of two 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
• Defects in SCNN1B are a cause of autosomal recessive pseudohypoaldosteronism type 1 (PHA1) [MIM:264350]
• PHA1 is a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids
• There are 2 forms of PHA1: the autosomal recessive form that is severe, and the dominant form which is more milder and due to defects in mineralocorticoid receptor
• Autosomal recessive PHA1 is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatraemia, hyperkalaemia, metabolic acidosis, failure to thrive and weight loss
• Defects in SCNN1B are a cause of Liddle syndrome
• It is an autosomal dominant disorder characterized by pseudoaldosteronism and hypertension associated with hypokalemic alkalosis
• The disease is caused by constitutive activation of the renal epithelial sodium channel.