Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain.
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.
Pseudohypoaldosteronism 1, autosomal dominant
PHA1A
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Early-onset hypertension with severe exacerbation in pregnancy
EOHSEP
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Phosphorylated.
Belongs to the nuclear hormone receptor family. NR3 subfamily.
Ubiquitous. Highly expressed in distal tubules, convoluted tubules and cortical collecting duct in kidney, and in sweat glands. Detected at lower levels in cardiomyocytes, in epidermis and in colon enterocytes.
MCR, MLR, NR3C2, Mineralocorticoid receptor, MR, Nuclear receptor subfamily 3 group C member 2
Proteins
Neuroscience
107082Da
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