A specific mutation in TBL1XR1 causes Pierpont syndrome.
Amsterdam, Netherlands. In J Med Genet, Feb 2016
The mutant TBL1XR1 protein assembled correctly into the nuclear receptor corepressor (NCoR)/ silencing mediator for retinoid and thyroid receptors (SMRT) complex, suggesting a dominant-negative mechanism.
TBL1XR1 in physiological and pathological states.
North Bay Shore, United States. In Am J Clin Exp Urol, 2014
Transducin (beta)-like 1X related protein 1 (TBL1XR1/TBLR1) is an integral subunit of the NCoR (nuclear receptor corepressor) and SMRT (silencing mediator of retinoic acid and thyroid hormone receptors) repressor complexes.