TTLL12
Chr 22tubulin tyrosine ligase like 12
Also known as: dJ526I14.2
This protein regulates tubulin post-translational modifications including detyrosination and polyglutamylation, promotes histone H4 trimethylation at lysine 20, and negatively regulates the RIG-I antiviral pathway. Mutations in TTLL12 have not yet been definitively associated with human disease. The gene shows minimal constraint against loss-of-function variants.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
231 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 44 | 0 | 44 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 142 | 5 | 0 | 147 |
Likely Benign | 0 | 10 | 1 | 7 | 18 |
Benign | 0 | 0 | 1 | 4 | 5 |
| Total | 0 | 152 | 51 | 11 | 214 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTLL12 · 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