LongevityMap Gene

Gene details

HGNC symbol: TBL1XR1
Aliases: C21; DC42; IRA1; MRD41; TBLR1
Common name: transducin beta like 1 X-linked receptor 1
Description: 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]
Cytogenetic Location: 3q26.32
UCSC Genome Browser: View 3q26.32 on the UCSC genome browser
OMIM: 608628
Ensembl: ENSG00000177565
UniProt/Swiss-Prot: TBL1R_HUMAN
Entrez Gene: 79718
UniGene: 714201
1000 Genomes: 1000 Genomes

GenAge model organism genes

Significant/Non-significant: 1/0

Longevity Association

Significant

Population

American (Caucasian)

Study Design

Genome-wide association study in 801 centenarians and 914 healthy controls

Conclusions

281 SNPs were found to discriminate between cases and controls

Indentifier

rs6443429

Reference