Photoreceptor-Specific Nuclear Receptor (NR2E3) ELISA Kit for Human

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 gene encodes 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. [provided by RefSeq, Jul 2008]

NR2E3: Orphan nuclear receptor of retinal photoreceptor cells. Transcriptional factor that is an activator of rod development and repressor of cone development. Binds the promoter region of a number of rod- and cone-specific genes, including rhodopsin, M- and S-opsin and rod-specific phosphodiesterase beta subunit. Enhances rhodopsin expression. Represses M- and S-cone opsin expression. Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS). ESCS is an autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP37 inheritance is autosomal dominant. Belongs to the nuclear hormone receptor family. NR2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor

Chromosomal Location of Human Ortholog: 15q23

Cellular Component: nucleoplasm; nucleus; transcription factor complex

Molecular Function: ligand-dependent nuclear receptor activity; protein binding; sequence-specific DNA binding; steroid hormone receptor activity; zinc ion binding

Biological Process: eye photoreceptor cell development; intracellular receptor signaling pathway; negative regulation of cell proliferation; negative regulation of transcription from RNA polymerase II promoter; phototransduction; positive regulation of rhodopsin gene expression; positive regulation of transcription from RNA polymerase II promoter; retina development in camera-type eye; signal transduction; steroid hormone mediated signaling; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; visual perception

Disease: Enhanced S-cone Syndrome; Retinitis Pigmentosa 37