Rabbit anti-Human NR2E3 Polyclonal Antibody

Uniprot Id

Q9Y5X4

Target Species

Human

Target Name

NR2E3

Target Full Name

Photoreceptor-specific nuclear receptor

Target Function

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.

Target Involvement

Enhanced S cone syndrome (ESCS); Retinitis pigmentosa 37 (RP37)

Target Subcellular Location

Nucleus.

Target Protein Families

Nuclear hormone receptor family, NR2 subfamily

Target Tissue Specificity

Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.

Target Synonyms

PNR; RNR; rd7; ESCS; RP37; NR2E3

Target Background

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.