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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. VSX1 may regulate expression of the cone opsin genes early in development. Mutations in VSX1 can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. The protein 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.
CAASDS; CHX10-like; homeodomain protein RINX; KTCN; KTCN1; PPCD; PPCD1; PPD; Retinal inner nuclear layer homeobox protein; RINX; Transcription factor VSX1; visual system homeobox 1; visual system homeobox 1 homolog (zebrafish); VSX1
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