RTL9
Chr Xretrotransposon Gag like 9
Also known as: MAR9, MART9, RGAG1, SIRH10
RTL9 encodes a retrotransposon-like protein involved in transcriptional regulation and chromatin organization. Mutations cause autosomal recessive developmental delay with seizures, intellectual disability, and growth retardation, typically presenting in infancy or early childhood. The gene is highly constrained against loss-of-function variants, indicating that complete loss of RTL9 function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RTL9 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools