Supriya Ghosh (Editor)

VSX1

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Species
  
Entrez
  
30813

Human
  
Ensembl
  
ENSG00000100987

VSX1

Aliases
  
VSX1, CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1

External IDs
  
MGI: 1890816 HomoloGene: 8743 GeneCards: VSX1

Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.

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 (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.

References

VSX1 Wikipedia


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