TRIP11

TRIP11 was identified based on the interaction of its protein product with thyroid hormone receptor beta. TRIP11 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 function in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in TRIP11 cause achondrogenesis type IA.

Thyroid Hormone Receptor Interactor 11

Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function (PubMed:25473115, PubMed:30728324).
It is required for efficient anterograde and retrograde trafficking in the early secretory pathway, functioning at both the ER-to-Golgi intermediate compartment (ERGIC) and Golgi complex (PubMed:25717001).
Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription.

Biological Process cartilage development Source:UniProtKB1 Publication
Biological Process chondrocyte differentiation involved in endochondral bone morphogenesis Source:Ensembl
Biological Process endoplasmic reticulum to Golgi vesicle-mediated transport Source:GO_Central1 Publication
Biological Process Golgi organization Source:GO_Central1 Publication
Biological Process Golgi ribbon formation Source:UniProtKB1 Publication
Biological Process inner ear receptor cell stereocilium organization Source:Ensembl
Biological Process protein glycosylation Source:Ensembl
Biological Process transcription by RNA polymerase II Source:ProtInc1 Publication
Biological Process ventricular septum development Source:Ensembl
Biological Process vesicle tethering to Golgi Source:UniProtKB1 Publication

Golgi apparatus, cis-Golgi network membrane
Cytoplasm, cytoskeleton
Endoplasmic reticulum-Golgi intermediate compartment membrane
Associates with the ends of centrosome-nucleated microtubules.

Achondrogenesis 1A (ACG1A):
A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues.
Odontochondrodysplasia 1 (ODCD1):
An autosomal recessive disorder of skeletal and dental development characterized by mesomelic shortening of tubular bones, ligamentous laxity, scoliosis, and dentinogenesis imperfecta involving both primary and secondary dentition. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses.