NR3C2 Antibody – Mouse Monoclonal

This gene encodes the mineralocorticoid receptor, which mediates aldosterone actions on salt and water balance within restricted target cells. The protein functions as a ligand-dependent transcription factor that binds to mineralocorticoid response elements in order to transactivate target genes. Mutations in this gene cause autosomal dominant pseudohypoaldosteronism type I, a disorder characterized by urinary salt wasting. Defects in this gene are also associated with early onset hypertension with severe exacerbation in pregnancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

MCR: 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. Defects in NR3C2 are a cause of autosomal dominant pseudohypoaldosteronism type I (AD-PHA1). PHA1 is characterized by urinary salt wasting, resulting from target organ unresponsiveness to mineralocorticoids. There are 2 forms of PHA1: the autosomal dominant form that is mild, and the recessive form which is more severe and due to defects in any of the epithelial sodium channel subunits. In AD-PHA1 the target organ defect is confined to kidney. Clinical expression can vary from asymptomatic to moderate. It may be severe at birth, but symptoms remit with age. Familial and sporadic cases have been reported. Defects in NR3C2 are a cause of 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. Belongs to the nuclear hormone receptor family. NR3 subfamily. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor; DNA-binding

Chromosomal Location of Human Ortholog: 4q31.1

Cellular Component: nucleoplasm; endoplasmic reticulum membrane; receptor complex

Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; transcription factor activity; steroid binding

Biological Process: transcription initiation from RNA polymerase II promoter; regulation of transcription, DNA-dependent; gene expression; steroid hormone mediated signaling; signal transduction

Disease: Hypertension, Early-onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy; Pseudohypoaldosteronism, Type I, Autosomal Dominant