nuclear receptors
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
- autosomal dominant retinitis pigmentosa (ADRP)
- autosomal recessive enhanced S-cone syndrome
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#