Recombinant Human Visual system homeobox 1 (VSX1)

Uniprot Id

Q9NZR4

Target Species

Human

Target Name

VSX1

Target Full Name

Visual system homeobox 1

Target Function

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. Dispensable in early retinal development.

Target Involvement

Keratoconus 1 (KTCN1); Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family

Target Tissue Specificity

In the adult eye, expressed in lens, iris, ciliary body, choroid, optical nerve head and, most strongly, in retina, but not expressed in sclera and cornea. According to PubMed:11978762, expressed in adult retina but not in lens and cornea. Within adult re

Target Synonyms

VSX1; RINX; Visual system homeobox 1; Homeodomain protein RINX; Retinal inner nuclear layer homeobox protein; Transcription factor VSX1

Target Background

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.