RRN3
Chr 16RNA polymerase I transcription factor RRN3
Also known as: A-270G1.2, TIFIA
The RRN3 protein is required for efficient transcription initiation by RNA polymerase I and formation of the competent pre-initiation complex in the nucleolus. Mutations cause autosomal recessive developmental delays, intellectual disability, and growth retardation with onset in infancy or early childhood. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RRN3 · 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 →External Resources
Links to major genomics databases and tools