POLR3A
Chr 10ARRNA polymerase III subunit A
Also known as: ADDH, C160, HLD7, RPC1, RPC155, WDRTS, hRPC155
The protein is the catalytic component of RNA polymerase III, which synthesizes small RNAs including tRNAs and rRNAs essential for protein synthesis. Biallelic mutations cause hypomyelinating leukodystrophy 7 (with or without oligodontia and hypogonadotropic hypogonadism) and Wiedemann-Rautenstrauch syndrome through an autosomal recessive inheritance pattern. Mutations can cause disease through dominant-negative effects, where mutant protein interferes with normal RNA polymerase III function.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLR3A · 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
External Resources
Links to major genomics databases and tools