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NR3C2 nuclear receptor subfamily 3 group C member 2

Also known as: MR; MCR; MLR; NR3C2VIT

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]

Genomic context

Location:
4q31.23
Sequence:
Chromosome: 4; NC_000004.12 (148078764..148444698, complement)
Total number of exons:
11

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