VSX1
Description
The VSX1 (visual system homeobox 1) is a protein-coding gene located on chromosome 20.
VSX1 is a protein that in humans is encoded by the VSX1 gene. The protein contains a paired-like homeodomain and binds to the core of the locus control region of the red/green cone opsin gene cluster. VSX1 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.
VSX1 binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. It may regulate the activity of the LCR and the cone opsin genes at earlier stages of development. VSX1 is dispensable in early retinal development.
VSX1 is also known as CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX.
Associated Diseases
- Craniofacial anomalies and anterior segment dysgenesis syndrome
- Keratoconus 1
- Posterior polymorphous corneal dystrophy
