NR2E3
MIM.604485 15q23
NR2E3 codes for a photoreceptor cell-specific nuclear receptor.
NR2E3 encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. The NR2E3 protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways.
Nuclear receptors 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.
Pathology
NR2E3 germline mutations in autosomal dominant retinitis pigmentosa
- "Autosomal dominant retinitis pigmentosa" (adRP) refers to a genetically heterogeneous group of retinal dystrophies, in which 54% of all cases can be attributed to 17 disease loci.
NR2E3 germline mutations in autosomal recessive enhanced S-cone syndrome, a specific retinal phenotype.
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#