VSX1 encoded by this gene 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 and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. VSX1 (Visual System Homeobox 1) is a Protein Coding gene. Diseases associated with VSX1 include Keratoconus 1 and Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome.
