Aliases for VSX1 Gene
External Ids for VSX1 Gene
Previous HGNC Symbols for VSX1 Gene
Previous GeneCards Identifiers for 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 and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for VSX1 Gene
VSX1 (Visual System Homeobox 1) is a Protein Coding gene. Diseases associated with VSX1 include Keratoconus 1 and Corneal Dystrophy, Posterior Polymorphous, 1. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is VSX2.
UniProtKB/Swiss-Prot for VSX1 Gene
Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster. May regulate the activity of the LCR and the cone opsin genes at earlier stages of development.