TUT4
Chr 1terminal uridylyl transferase 4
Also known as: PAPD3, TENT3A, ZCCHC11
The TUT4 protein is a uridylyltransferase that regulates mRNA stability and microRNA biogenesis through terminal uridylation of RNA substrates. Mutations cause autosomal recessive developmental delay, intellectual disability, and microcephaly with onset in infancy. This gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.107), reflecting its essential role in RNA metabolism and early development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
TUT4 · 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