TUT1
Chr 11terminal uridylyl transferase 1, U6 snRNA-specific
Also known as: PAPD2, RBM21, STARPAP, TENT1, TUTase, URLC6
This protein functions as a poly(A) polymerase that adds nucleotides to the 3' end of specific mRNAs and also acts as a terminal uridylyltransferase for U6 snRNA, playing essential roles in mRNA processing and gene expression control. Mutations cause autosomal recessive intellectual disability with onset in early childhood. The gene shows strong constraint against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TUT1 · 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