VSX1 Chromosome 20
Visual system homeobox 1
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What This Gene Does
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 Info
Gene Group
PRD class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
20p11.21
Ensembl
ENSG00000100987
Associated Conditions (6)
Posterior polymorphous corneal dystrophy
Keratoconus 1
VSX1-related disorder
Inborn genetic diseases
Craniofacial anomalies and anterior segment dysgenesis syndrome
Posterior polymorphous corneal dystrophy 1
Key Variants
RS148957473
Conflicting classifications of pathogenicity
Posterior polymorphous corneal dystrophy, Keratoconus 1, VSX1-related disorder
Health Risk
RS369865672
Conflicting classifications of pathogenicity
Posterior polymorphous corneal dystrophy, VSX1-related disorder, Posterior polymorphous corneal dystrophy
Health Risk
RS530039573
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS576300014
Conflicting classifications of pathogenicity
Posterior polymorphous corneal dystrophy, Craniofacial anomalies and anterior segment dysgenesis syndrome, Keratoconus 1
Health Risk
RS74315433
Conflicting classifications of pathogenicity
Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy 1
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148957473 | Health Risk | Conflicting classifications of pathogenicity | Posterior polymorphous corneal dystrophy, Keratoconus 1, VSX1-related disorder |
| RS369865672 | Health Risk | Conflicting classifications of pathogenicity | Posterior polymorphous corneal dystrophy, VSX1-related disorder, Posterior polymorphous corneal dystrophy |
| RS530039573 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS576300014 | Health Risk | Conflicting classifications of pathogenicity | Posterior polymorphous corneal dystrophy, Craniofacial anomalies and anterior segment dysgenesis syndrome, Keratoconus 1 |
| RS74315433 | Health Risk | Conflicting classifications of pathogenicity | Posterior polymorphous corneal dystrophy 1, Posterior polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy 1 |