Gene: TBL1XR1
Alternate names for this Gene: C21|DC42|IRA1|MRD41|TBLR1
Gene Summary: 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3q26.32
Description of this Gene: TBL1X receptor 1
Type of Gene: protein-coding