TTI1
Chr 20ARTELO2 interacting protein 1
Also known as: KIAA0406, NEDMIM, smg-10
TTI1 encodes a regulator of the DNA damage response and stabilizes phosphatidylinositol 3-kinase-related protein kinases, while also promoting assembly and maintaining activity of mTORC1 and mTORC2 complexes that regulate cell growth and survival. Autosomal recessive mutations cause neurodevelopmental disorder with microcephaly and movement abnormalities. The gene shows low constraint to loss-of-function variation, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
TTI1 · 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