Entrez gene ID | | 30813 |
Official gene symbol | | VSX1 |
Full name | | visual system homeobox 1 |
Aliases | | ,KTCN,PPCD,PPD,RINX, |
Gene 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] |
Location | | Chromosome: 20 Locus: 20p11.23-p11.22 |
Gene position | | 25062767 - 25056099 Map Viewer |
Gene orientation | | minus |
Gene size | | 6669 bp |
Gene sequence |
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OMIM ID | | 605020 |
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