NR2E3 protein

Near N-terminus of human. Synthetic peptide - KLH conjugated.
Uses: IHC (7 ug/ml) (Optimal dilution to be determined by the researcher)

Belongs to the nuclear hormone receptor family. Summary: This 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 in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This protein is a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [1] Hayashi T. Gekka T. Goto-Omoto S. Takeuchi T. Kubo A. and Kitahara K. Novel NR2E3 mutations (R104Q R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity[2] Peng G. H. Ahmad O. Ahmad F. Liu J. and Chen S. et al. The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes[3] Chen J. Rattner A. and Nathans J. et al. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes[4] Wright A. F. Reddick A. C. Schwartz S. B. Ferguson J. S. Aleman T. S. Kellner U. Jurklies B. Schuster A. Zrenner E. et al. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome[5] Cheng H. Khanna H. Oh E. C. Hicks D. Mitton K. P. and Swaroop A. et al. Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors[6] Strausberg R. L. Feingold E. A. Grouse L. H. Derge J. G. Klausner R. D. Collins F. S. Wagner L. Shenmen C. M. Schuler G. D. Altschul S. F. et al. Generation and initial analysis of more than 15 000 full-length human and mouse cDNA sequences. [7] Strausberg R. Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases.