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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 and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described.
Gene Name: | visual system homeobox 1 |
Synonyms: | VSX1, Homeodomain protein RINX, PPD, RINX, Transcription factor VSX1, Visual system homeobox 1, PPCD, CAASDS, KTCN, KTCN1 |
Target Sequences: | NM_014588 NP_055403.2 Q9NZR4 |
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