POLR1C
Chr 6ARRNA polymerase I and III subunit C
Also known as: AC40, HLD11, RPA39, RPA40, RPA5, RPAC1, RPC40, TCS3
The protein functions as a subunit of both RNA polymerase I and RNA polymerase III complexes, serving as part of the polymerase core element essential for ribosomal RNA and transfer RNA synthesis. Mutations cause autosomal recessive Treacher Collins syndrome 3 and hypomyelinating leukodystrophy 11. The pathogenic mechanism involves disruption of ribosomal biogenesis and cellular transcription processes.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLR1C · 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