EXOSC3
Chr 9ARexosome component 3
Also known as: CGI-102, PCH1B, RRP40, Rrp40p, bA3J10.7, hRrp-40, p10
The protein is a non-catalytic component of the human exosome complex, which has 3'-5' exoribonuclease activity and functions in RNA processing and degradation. Mutations cause pontocerebellar hypoplasia type 1B, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of essential RNA processing pathways required for normal brain development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
EXOSC3 · 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