基因名称(Gene Name)
RAX2 QRX RAXL1
免疫原
Synthesized peptide derived from human RAX2 AA range: 95-145
特异性
This antibody detects endogenous levels of RAX2 at Human
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
This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch's membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016],
功能
disease:Defects in RAX2 are the cause of age-related macular degeneration type 6 (ARMD6) [MIM:603075]. ARMD is in most patients manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch's membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders.,disease:Defects in RAX2 are the cause of cone-rod dystrophy type 11 (CORD11) [MIM:610381]. CORD is characterized by the initial degeneration of cone photoreceptor cells, thus causing early loss of visual acuity and color vision, followed by the degeneration of rod photoreceptor cells and leading to progressive night blindness and peripheral visual field loss.,domain:The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.,function:May be involved in mod
