Synthesized peptide derived from part region of human protein

VSX1 Polyclonal Antibody detects endogenous levels of protein.

VSX1 RINX

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

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],

Alternative products:Additional isoforms seem to exist,Disease:Defects in VSX1 are a cause of keratoconus [MIM:148300]. It is a frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.,Disease:Defects in VSX1 are a cause of posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]. PPCD is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. PPCD is usually inherited as an autosomal dominant trait.,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.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 CVC domain.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in the embryonic craniofacial and exclusively in the retinal inner nuclear layer of the adult.,

Nucleus .