NR3C2 - Mineralocorticoid receptor - human protein (Medical)
 
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Protein
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NR3C2 »  Mineralocorticoid receptor  (MR)
 
Protein also known as:  Nuclear receptor subfamily 3 group C member 2.
Gene name:  NR3C2
Family name: Nuclear hormone receptor » NR3
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]: A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]: Inheritance is autosomal dominant. The disease is characterized by the onset of severe hypertension before the age of 20, and by suppression of aldosterone secretion. 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:
Pseudohyperaldosteronism type 2  88660  
Renal pseudohypoaldosteronism type 1  171871  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drugs:
Desoxycorticosterone Pivalate  DB01134  
Eplerenone  DB00700  
Fludrocortisone  DB00687  
Spironolactone  DB00421  
 

Keywords

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

Further external links

Organism-specific databases
CTD: 4306
MIM: 177735
MIM: 605115
PharmGKB: PA242
Polymorphism databases
DMDM: 126885
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.