Retina and anterior neural fold homeobox protein 2 (RAX2)

Retina and anterior neural fold homeobox protein 2 (RAX2) is a homeodomain-containing transcription factor predominantly expressed in the outer and inner nuclear layers of the retina. RAX2 regulates photoreceptor gene expression by acting as a coactivator, often forming complexes with other transcription factors such as CRX and NRL. It is critical for retinal development, particularly through its influence on the expression of key developmental genes like PAX6 and SOX2. Mutations in the RAX2 gene have been associated with inherited retinal disorders, including autosomal dominant cone-rod dystrophy (CORD11), autosomal recessive retinitis pigmentosa (ARRP), and age-related macular degeneration type 6 (ARMD6). RAX2 mutations disrupt normal photoreceptor cell function and differentiation, leading to progressive vision loss. To date, no approved drugs directly target RAX2.

Other names

QRXRAXL1MGC15631ARMD6CORD11Q50-type retinal homeobox proteinRetina and anterior neural fold homeobox-like protein 1RP95