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Nuclear receptor subfamily 3, group C, member 2 (HGNC Symbol)
Entrez gene summary
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]
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014)
Nuclear receptors Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014)
