TRIP11 : thyroid hormone receptor interactor 11

Description

The TRIP11 (thyroid hormone receptor interactor 11) is a protein-coding gene located on chromosome 14.

The TRIP11 gene provides instructions for making a protein known as thyroid receptor-interacting protein 11 (TRIP-11). This protein is found in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Studies suggest that TRIP-11 helps to maintain the structure of the Golgi apparatus, and it may also be involved in the transport of certain proteins out of cells. Although TRIP-11 is found throughout the body, researchers suspect that it may have a particularly important role in cells called chondrocytes in the developing skeleton. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

TRIP11 is a membrane tether that helps vesicles attach to the Golgi apparatus. It plays a critical role in maintaining the Golgi's structure and function, facilitating the efficient transport of proteins through the early secretory pathway, both from the ER to the Golgi intermediate compartment (ERGIC) and within the Golgi complex itself. TRIP11 binds to the ligand-binding domain of the thyroid receptor (THRB) when triiodothyronine is present, enhancing THRB-mediated transcription. TRIP11 also interacts with the active form of RAB2A and IFT20.

TRIP11 is also known as ACG1A, CEV14, GMAP-210, GMAP210, ODCD, ODCD1, TRIP-11, TRIP230.

Associated Diseases

Comprehensive carrier screening

WES Whole Exome Sequencing

Clinical Exome Sequencing