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VSX1 gene

visual system homeobox 1

Key facts

Official symbol
VSX1
Full name
VSX1
Chromosome
20
Map location
20p11.21
Organism
Homo sapiens
NCBI Gene ID
30813
Also known as
CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD

Function 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].

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Data source: NCBI Gene · alsesAI Gene Library