Retina And Anterior Neural Fold Homeobox Protein 2 (RAX2)

RAX2 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.Human and bovine QRX share 91% amino acid identity, with 100% conservation in the Q50-type paired-like homeodomain. A putative monopartite nuclear localization signal is located 4 amino acids N-terminal to the beginning of the homeodomain.