POLR1A
Chr 2ADARRNA polymerase I subunit A
Also known as: A190, AFDCIN, HLD27, RPA1, RPA190, RPA194, RPO1-4, RPO14
POLR1A encodes the largest catalytic subunit of RNA polymerase I, which transcribes DNA into ribosomal RNA precursors essential for ribosome biogenesis. Mutations cause acrofacial dysostosis Cincinnati type and hypomyelinating leukodystrophy, with both autosomal dominant and autosomal recessive inheritance patterns reported. This gene is highly constrained against loss-of-function variants in the general population, indicating that POLR1A variants are likely to be pathogenic when they do occur.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLR1A · 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