AlphaFold predicted structure
VSX1 · Q9NZR4
Mean pLDDT
60.1/ 100
Low
365 residues
Confidence breakdown
- Very high(≥ 90)14%
- Confident(70–90)9%
- Low(50–70)43%
- Very low(< 50)34%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
VSX1
Chr 20p11.21visual system homeobox 1
- Aliases:
- PPD, PPCD1
- MANE:
- ENST00000376709.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Corneal abnormalities
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCorneal dystrophy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disease associations (Open Targets)
keratoconus 1
0.75craniofacial anomalies and anterior segment dysgenesis syndrome
0.53keratoconus
0.45posterior polymorphous corneal dystrophy
0.44neurodegenerative disease
0.25posterior polymorphous corneal dystrophy 1
0.22paralytic strabismus
0.22hereditary disease
0.19thyroiditis
0.19retinal degeneration
0.17
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Visual system homeobox 1
Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster (PubMed:10903837). May regulate the activity of the LCR and the cone opsin genes at earlier stages of development (PubMed:10903837). Dispensable in early retinal development (By similarity)
Diseases associated with VSX1
Curated MONDO disease pages that list VSX1 among their top associated genes.