VSX1
Sign in to saveAlso known as CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX, visual system homeobox 1
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
Gene data
VSX1- Name
- visual system homeobox 1
- Type
- protein-coding
- Position
- 25,069,941–25,082,141 (−)
- Aliases
- CAASDS, KTCN, KTCN1, PPCD, PPCD1, PPD, RINX
- Ensembl
- ENSG00000100987
- RefSeq RNA
- NM_001256271.2, NM_001256272.2, NM_001378633.1, NM_014588.6, NM_199425.3
- RefSeq protein
- NP_001243200.1, NP_001243201.1, NP_001365562.1, NP_055403.2, NP_955457.1
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].
Gene Ontology
Biological process
Molecular function
via MyGene.info
Gene · Ensembl
visual system homeobox 1
- Symbol
- VSX1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:25,069,941-25,082,141
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 8743
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/30813
- genomic end
- 25082141
- genomic start
- 25051521
- chromosome
- human chromosome 20
- cytogenetic location
- 20p11.21
- expressed in
- nucleus accumbens
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
2 sectionsContents
- References
- Further reading
Visual system homeobox 1 is a protein that in humans is encoded by the VSX1 gene.
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 cone opsin 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 (PPCD) and keratoconus. Two transcript variants encoding different isoforms have been found for this gene.
Excerpted from Wikipedia’s “VSX1” article, available under the CC BY-SA 4.0 licence.