Gene Symbol | TBL1XR1 |
Entrez Gene ID | 79718 |
Full Name | transducin beta like 1 X-linked receptor 1 |
Synonyms | C21,DC42,IRA1,MRD41,TBLR1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal dominant 41 , 616944 (3); Pierpont syndrome, 602342 (3) |