产品名称
NR2E3 Rabbit Polyclonal Antibody
蛋白名称
Photoreceptor-specific nuclear receptor (Nuclear receptor subfamily 2 group E member 3) (Retina-specific nuclear receptor)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Swissprot No.
Q9Y5X4
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9Y5X4/entry
Mouse Swissprot No.
Q9QXZ7
Mouse Swissprot Link
http://www.uniprot.org/uniprot/Q9QXZ7
免疫原
Synthesized peptide derived from part region of human protein
特异性
NR2E3 Polyclonal Antibody detects endogenous levels of protein.
稀释度
WB 1:500-2000 ELISA 1:5000-20000
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
组织表达
Eye specific; found solely in the outer nuclear layer of the adult neurosensory retina, where the nuclei of cone and rod photoreceptors reside.
功能
disease:Defects in NR2E3 are a cause of enhanced S cone syndrome (ESCS) [MIM:268100]. 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.,disease:Defects in NR2E3 are the cause of retinitis pigmentosa type 37 (RP37) [MIM:611131]. 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.,function:Transcription factor that may have a role in the regulation of signaling pathways intrinsic to the photoreceptor cell function.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the nuclear hormone receptor family.,similarity:Belongs to the nuclear hormone receptor family. NR2 subfamily.,similarity:Contains 1 nuclear receptor DNA-binding domain.,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.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.