RS1
Chr XXLRretinoschisin 1
Also known as: RS, XLRS1
The RS1 protein is secreted by retinal photoreceptors and bipolar cells as oligomeric complexes that bind membrane lipids and mediate cell-cell adhesion to maintain normal retinal structure. Mutations cause X-linked retinoschisis, an early-onset macular degeneration in males characterized by splitting of the inner retinal layers and severe vision loss. This gene is highly constrained against loss-of-function variants (pLI 0.96, LOEUF 0.30) and follows X-linked recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Follow-up Study to Evaluate the Safety of RetinoStat® in Patients With Age-Related Macular Degeneration
ACTIVE NOT RECRUITINGClinical and Genetic Studies of X-Linked Juvenile Retinoschisis
ACTIVE NOT RECRUITINGATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis
RECRUITINGSafety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools