VSX1 - The gene of keratoconus
The full English name of this gene is Visual system homeobox 1 homolog, CHX10 - like (zebrafish), abbreviated as VSX1. It is a genome that encodes a homeodomain-containing protein accompanying to a subfamily of paired-like homeodomain proteins. These proteins are responsible for the development of the eye and craniofacial area. The family name can be seen the similarity with the homeodomain of paired homeodomain protein that is present in the organism Drosophila. Human VSX1 protein structure is 55% identical to a similar protein zebrafish and 35% protein Chx10 in mice.
The expression of VSX1 is produced by retinal cells and keratocytes of the cornea, and in the latter it is almost not observed in a calm state, but is clearly detected during the transition to the phenotype of fibroblasts and myofibroblasts.
Some studies suggest an association of the VSX1 gene mutations with the development of the rear polymorphous dystrophy of the cornea. In rare cases, the development of keratoconus was also associated with a mutation of this gene, but this was not confirmed by studies. A new mutation associated with keratoconus was reported in 2009 and is expected to replicate in other populations.
