SCNN1B (sodium channel. nonvoltage-gated 1. beta (Liddle syndrome))

Polyclonal antibody produced in rabbits immunized with a synthetic peptide corresponding to a region of Human SCNN1B.

Signal Protein

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.

Apical cell membrane; Multi-pass membrane protein. Note=Apical membrane of epithelial cells.

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.

Belongs to the amiloride-sensitive sodium channel family. Snyder. P. M. . et al. . (2004) J. Biol. Chem. 279 (44). 45753-45758.