Disease-gene associations mined from literature

Literature associating TRIP11 and X-linked spondyloepiphyseal dysplasia tarda

TRIP11 [ENSP00000267622]

Thyroid receptor-interacting protein 11; Is a membrane tether required for vesicle tethering to Golgi. Has an essential role in the maintenance of Golgi structure and function . 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 . Binds the ligand binding domain of the thyroid receptor (THRB) in the presence of triiodothyronine and enhances THRB-modulated transcription. ECO:0000269|PubMed:25717001, ECO:0000269|PubMed:30728324,

Synonyms:  TRIP11,  TRIP11p,  hTRIP11,  G3V4R7,  H0YJ97 ...

Linkouts:  STRING  Pharos  UniProt  OMIM