TBL1XR1 TBL1X/Y related 1
Gene ID: 79718, updated on 2-Nov-2024Gene type: protein coding
Also known as: C21; DC42; IRA1; MRD41; TBLR1
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- Go to complete Gene record for TBL1XR1
- Go to Variation Viewer for TBL1XR1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Intellectual disability, autosomal dominant 41 | See labs |
| Pierpont syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Little evidence for dosage pathogenicity (Last evaluated 2019-03-27) ClinGen Genome Curation PagePubMedHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-03-27) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 3q26.32
- Sequence:
- Chromosome: 3; NC_000003.12 (177019344..177201800, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TBL1XR1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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