免疫原
Synthesized peptide derived from human NYX AA range: 139-189
特异性
This antibody detects endogenous levels of NYX at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCSNB). CSNB1 is a rare inherited retinal disorder characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity. The role of other SLRP proteins suggests that mutations in this gene disrupt developing retinal interconnections involving the ON-bipolar cells, leading to the visual losses seen in patients with complete CSNB. [provided by RefSeq, Oct 2008],
功能
disease:Defects in NYX are the cause of congenital stationary night blindness type 1A (CSNB1A) [MIM:310500]; also called X-linked congenital stationary night blindness (XLCSNB). Congenital stationary night blindness is a non-progressive retinal disorder characterized by impaired night vision. CSNB1A is characterized by impaired scotopic vision, myopia, hyperopia, nystagmus and reduced visual acuity.,online information:Retina International's Scientific Newsletter,similarity:Belongs to the small leucine-rich proteoglycan (SLRP) family. Class IV subfamily.,similarity:Contains 11 LRR (leucine-rich) repeats.,tissue specificity:Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.,
