{"symbol":"NR3C2","synonyms":["MR","MCR","MLR","NR3C2VIT"],"name":"nuclear receptor subfamily 3, group C, member 2","description":"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]","ncbiEntrezGeneId":4306,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/4306","proteins":[{"symbol":"MCR_HUMAN","href":"/api/1.0/protein/MCR_HUMAN"}],"hgncRootFamilies":[{"name":"Zinc fingers","href":"/api/1.0/gene_family/Zinc+fingers"}]}