NP_001243200.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
32,054 Da
NCBI Official Full Name
visual system homeobox 1 isoform c
NCBI Official Synonym Full Names
visual system homeobox 1
NCBI Official Synonym Symbols
PPD; KTCN; PPCD; RINX; KTCN1; PPCD1; CAASDS [Similar Products]
NCBI Protein Information
visual system homeobox 1
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_HUMAN
NCBI Summary for 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]
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
Chromosomal Location of Human Ortholog: 20p11.21
Cellular Component: nucleus
Molecular Function: chromatin binding
Biological Process: neuron development; regulation of transcription, DNA-dependent
Disease: Corneal Dystrophy, Posterior Polymorphous, 1; Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome; Keratoconus 1
Research Articles on VSX1
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Diseases associated with anti-VSX1 antibody
Organs/Tissues associated with anti-VSX1 antibody
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