Official Full Name
retina and anterior neural fold homeobox 2
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 Bruchs 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.
RAX2; retina and anterior neural fold homeobox 2; RAXL1, retina and anterior neural fold homeobox like 1; retina and anterior neural fold homeobox protein 2; MGC15631; ARMD6; CORD11; Macular degeneration, age related 6, included; Q50 type retinal homeobox; QRX; Retina and anterior neural fold homeobox like 1; Q50-type retinal homeobox protein; retina and anterior neural fold homeobox-like protein 1; RAXL1; RAX; RX1; RX2; RAXL; cRax1; cRaxL; Rx-like; retinal homeobox protein Rx2; retinal homeobox protein Rx1