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nuclear receptors

Wednesday 31 October 2007

Nuclear receptors (NRs) have been shown to regulate pathways involved in embryonic development, as well as maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding.

Members

- NR1s
- NR2s

Pathology

- NR2E3 germline mutations in

References

- Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am J Hum Genet. 2007 Jul;81(1):147-57. PMID: 17564971