Gene
VSX1
visual system homeobox 1
- HGNC 12723↗(opens in a new tab)
- Ensembl gene ENSG00000100987↗(opens in a new tab)
- NCBI Gene 30813↗(opens in a new tab)
Summary
- Cytogenetic location
- 20p11.21
- Coordinates
- Chromosome 20: 25,075,463–25,082,141 (GRCh38)
- Exons
- 5 exons across 6.7 kb
- Protein
- 365 amino acids
- Also known as
- PPD, PPCD1
- Previous symbols
- PPCD
- MANE Select transcript
- ENST00000376709.9NM_014588.6
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How VSX1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 6.7 kb; 1,098 of those bases code for the protein.
Traits linked to VSX1
The Human Phenotype Ontology lists these as features of the rare conditions VSX1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Anterior synechiae of the anterior chamber
- Abnormal Descemet membrane morphology
- Reduced number of corneal endothelial cells
- Band keratopathy
- Decreased clarity of vision
- High eye pressure
- Optic disc pallor
- Underdeveloped iris
Show 18 more traits
- Wide-set eyes
- Astigmatism
- Increased corneal curvature
- Lazy eye
- Uveal ectropion
- Very low visual acuity
- Abnormality of tear production
- Blurred vision
- Chorioretinal atrophy
- Corneal opacity
- Displaced pupil
- Extreme sensitivity of the eyes to light
- Eye pain
- Glaucoma
- Inward turning cross eyed
- Abnormal electroretinogram
- Bulging cornea
- Ocular anterior segment dysgenesis
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Cite this page
Dante Labs. (n.d.). VSX1 gene: visual system homeobox 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/vsx1
Dante Labs. VSX1 gene: visual system homeobox 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/vsx1
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