TOE1
Chr 1ARtarget of EGR1, exonuclease
Also known as: PCH7, TOE-1, hCaf1z
TOE1 encodes a poly(A)-specific ribonuclease that processes snRNA 3'-ends and regulates cell growth by inducing CDKN1A and TGF-beta expression. Mutations cause pontocerebellar hypoplasia type 7, an autosomal recessive disorder characterized by severe underdevelopment of the pons and cerebellum. The gene shows extreme intolerance to loss-of-function variants (pLI near 1), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TOE1 · 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