VSX1 Antibody – Rabbit Polyclonal

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]

VSX1: 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. Defects in VSX1 are a cause of posterior polymorphous corneal dystrophy type 1 (PPCD1). PPCD1 is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. Defects in VSX1 are a cause of keratoconus type 1 (KTCN1). Keratoconus type 1 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. Defects in VSX1 are the cause of craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS). CAASDS is a disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. Belongs to the paired homeobox family. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell development/differentiation; DNA-binding

Chromosomal Location of Human Ortholog: 20p11.21

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding; transcription factor activity

Biological Process: transcription, DNA-dependent; visual perception; regulation of transcription, DNA-dependent; response to stimulus; neuron maturation; retinal bipolar neuron differentiation

Disease: Corneal Dystrophy, Posterior Polymorphous, 1; Keratoconus 1; Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome