Visual System Homeobox Protein 1 (VSX1)

VSX1 contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy (PPCD) and keratoconus.Two transcript variants encoding different isoforms have been found for this gene. Human VSX1 shares 55% overall sequence identity with the zebrafish and goldfish Vsx1 proteins and 35% overall identity with the goldfish Vsx2 and mouse Chx10 proteins. VSX1 expression in embryonic craniofacial, adult retina, and adult cornea libraries but not in adult lens, embryonic or adult brain, heart, kidney, liver, lung, skeletal muscle, spleen, or thymus libraries.