TRIP11
Chr 14thyroid hormone receptor interactor 11
Also known as: ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230
The protein functions as a membrane tether essential for maintaining Golgi structure and efficient trafficking in the early secretory pathway between the endoplasmic reticulum and Golgi complex. Mutations cause achondrogenesis type IA and odontochondrodysplasia 1, severe skeletal disorders that primarily affect cartilage and bone development. The gene follows autosomal recessive inheritance and is highly constrained against loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
TRIP11 · 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