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VSX1

Official Full Name
visual system homeobox 1
Organism
Homo sapiens
GeneID
30813
Background
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]
Synonyms
PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS;

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