POLR1E
Chr 9RNA polymerase I subunit E
Also known as: A49, PAF53, PRAF1, RPA49
POLR1E encodes a component of RNA polymerase I that synthesizes ribosomal RNA precursors and mediates the interaction between RNA polymerase I and the transcription factor UBTF at gene promoters. Mutations cause autosomal recessive developmental delay with facial dysmorphism and dental anomalies, typically presenting in early childhood. This gene is highly constrained against loss-of-function mutations, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLR1E · 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