Full name: visual system homeobox 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CAASDS; KTCN; KTCN1; PPCD; PPCD1; PPD; RINX

Summary: 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. [provided by RefSeq, Jul 2008]

Expression: Low expression observed in reference dataset

Gene size: 11262bp

Exon count: 8