| Entrez Gene ID |
79718 (NCBI Gene) |
| Official Gene Symbol |
TBL1XR1 (GeneCards) |
| Number of variants in TBL1XR1 in this database |
3 (view all the variants) |
| Full name |
transducin beta like 1 X-linked receptor 1 |
| Band |
3q26.32 |
| Other IDs |
Vega:
OTTHUMG00000157140
OMIM:
608628
HGNC:
HGNC:29529
Ensembl:
ENSG00000177565
|
| Other names |
C21,
DC42,
IRA1,
MRD41,
TBLR1
|
| 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. [provided by RefSeq, Mar 2016] |