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A 1:1,000 dilution of MA5-45354 was sufficient for detection of ENaC beta in 15 µg of Mouse whole kidney lysate by ECL immunoblot analysis using goat anti-mouse IgG:HRP as the secondary antibody.|Detects approximately 87kDa.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Amiloride-sensitive sodium channel subunit beta; Beta ENaC; Beta-ENaC; Beta-NaCH; ENaC beta; Epithelial Na(+) channel subunit beta; Nonvoltage-gated sodium channel 1 subunit beta; SCNEB; SCNN 1B
基因别名: Scnn1b
UniProt ID: (Mouse) Q9WU38
Entrez Gene ID: (Mouse) 20277