TRIP11

Chr 14

thyroid hormone receptor interactor 11

Also known as: ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230

NCBI Gene: 9321 ENSG00000100815 UniProt: Q15643

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.

ResearchSummary from RefSeq, OMIM, UniProt

This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAchondrogenesis 1A

UniProtOdontochondrodysplasia 1

Clinical highlights

Gene-disease validity (ClinGen)

TRIP11-related skeletal dysplasia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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