NP_473409.1
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NCBI GenBank Nucleotide #
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UniProt Related Accession #
Molecular Weight
38,755 Da
NCBI Official Full Name
visual system homeobox 1
NCBI Official Synonym Full Names
visual system homeobox 1 homolog (zebrafish)
NCBI Official Synonym Symbols
NCBI Protein Information
visual system homeobox 1; homeodomain protein RINX; transcription factor VSX1; retinal inner nuclear layer homeobox protein
UniProt Protein Name
Visual system homeobox 1
UniProt Synonym Protein Names
Homeodomain protein RINX; Retinal inner nuclear layer homeobox protein; Transcription factor VSX1
UniProt Synonym Gene Names
UniProt Entry Name
VSX1_MOUSE
UniProt Comments for VSX1
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: DNA-binding; Cell development/differentiation
Cellular Component: nucleus
Molecular Function: DNA binding; sequence-specific DNA binding
Biological Process: transcription, DNA-dependent; visual perception; regulation of transcription, DNA-dependent; multicellular organismal development; response to stimulus; neuron development; neuron maturation; retinal bipolar neuron differentiation
Research Articles on VSX1
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Products associated with VSX1 elisa kit
Diseases associated with VSX1 elisa kit
Organs/Tissues associated with VSX1 elisa kit
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