RAX2 rabbit pAb

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 modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with CRX.,