SCNN1B - Amiloride-sensitive sodium channel subunit beta - human protein (Medical)
 
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SCNN1B »  Amiloride-sensitive sodium channel subunit beta
 
Protein also known as:  Nonvoltage-gated sodium channel 1 subunit beta.
Gene name:  SCNN1B
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

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Disease 
Pseudohypoaldosteronism 1, autosomal recessive (PHA1B) [MIM:264350]: 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. The disease is caused by mutations affecting the gene represented in this entry. The degree of channel function impairment differentially affects the renin-aldosterone system and urinary Na/K ratios, resulting in distinct genotype-phenotype relationships in PHA1 patients. Loss-of-function mutations are associated with a severe clinical course and age-dependent hyperactivation of the renin-aldosterone system. This feature is not observed in patients with missense mutations that reduce but do not eliminate channel function. Markedly reduced channel activity results in impaired linear growth and delayed puberty (PubMed18634878).  
1
  • CuratedUniProtKB
Liddle syndrome (LIDDS) [MIM:177200]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Generalized pseudohypoaldosteronism type 1  171876  
Idiopathic bronchiectasis  60033  
Liddle syndrome  526  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Amiloride  DB00594  
Triamterene  DB00384  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 6338
MIM: 177200
MIM: 264350
MIM: 211400
PharmGKB: PA306
Polymorphism databases
DMDM: 8928561
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.