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ENaC-gamma 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. Defects in SCNN1G are a cause of Liddle syndrome (LIDDS). 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. Defects in SCNN1G are the cause of bronchiectasis with or without elevated sweat chloride type 3 (BESC3). 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. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass; Transporter, ion channel
Chromosomal Location of Human Ortholog: 16p12.2
Cellular Component: apical plasma membrane; external side of plasma membrane; integral component of plasma membrane; nucleolus; nucleoplasm; plasma membrane
Molecular Function: ion channel activity; ligand-gated sodium channel activity; protein binding; sodium channel activity; WW domain binding
Biological Process: excretion; multicellular organismal water homeostasis; response to stimulus; sensory perception of taste; sodium ion homeostasis; sodium ion transport
Disease: Bronchiectasis With Or Without Elevated Sweat Chloride 3; Liddle Syndrome; Pseudohypoaldosteronism, Type I, Autosomal Recessive
Reference #:  P51170 (UniProtKB)
Alt. Names/Synonyms: amiloride-sensitive epithelial sodium channel gamma subunit; Amiloride-sensitive sodium channel subunit gamma; BESC3; ENaC gamma; ENaC gamma subunit; ENaC-gamma; ENaCG; ENaCgamma; Epithelial Na(+) channel subunit gamma; Gamma-ENaC; Gamma-NaCH; Nonvoltage-gated sodium channel 1 subunit gamma; PHA1; SCNEG; SCNN1G; SCNNG; sodium channel, nonvoltage-gated 1, gamma
Gene Symbols: SCNN1G
Molecular weight: 74,270 Da
Basal Isoelectric point: 7.47  Predict pI for various phosphorylation states
CST Pathways:  Insulin Receptor Signaling
Select Structure to View Below


Protein Structure Not Found.

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