DISEASES

Disease-gene associations mined from literature

Literature associating NR3C2 and autosomal dominant pseudohypoaldosteronism type 1

NR3C2 [ENSP00000350815]

Nuclear receptor subfamily 3, group C, member 2; Receptor for both mineralocorticoids (MC) such as aldosterone and glucocorticoids (GC) such as corticosterone or cortisol. Binds to mineralocorticoid response elements (MRE) and transactivates target genes. The effect of MC is to increase ion and water transport and thus raise extracellular fluid volume and blood pressure and lower potassium levels; Nuclear hormone receptors

Synonyms:  NR3C2,  NR3C2p,  hNR3C2,  B0ZBF6,  B0ZBF8 ...

Linkouts:  STRING  Pharos  UniProt