Synonyms: C21,DC42,F box like/WD repeat containing protein TBL1XR1,F-box-like/WD repeat-containing protein TBL1XR1,FLJ12894,IRA1,Nuclear receptor corepressor/HDAC3 complex subunit,Nuclear receptor corepressor/HDAC3 complex subunit TBLR1,TBL1 related protein 1,TBL1-related protein 1,TBL1R,TBL1XR1,Transducin (beta) like 1 X linked receptor 1,Transducin beta like 1X related protein 1,Transducin beta-like 1X-related protein 1
Background: This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors.