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TBLR1 has a role in reducing apoptosis in prostate cancer under androgen deprivation
Targeted SUMOylation of TBL1 (show TBL1X Proteins) and TBLR1 may be a useful strategy for therapeutic treatment of androgen-independent prostate cancer.
TBL1XR1-microduplication syndrome is an intellectual disability/learning disability syndrome with associated incomplete penetrance autism spectrum disorders, hearing loss, and delay of puberty. Its phenotypic overlap indicates that it is a genomic sister-disorder to the 3q26.32 microdeletion syndrome
the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features..
TBL1XR1 contributes to GC tumorigenesis and progression through the activation of the beta-catenin (show CTNNB1 Proteins)/MMP7 (show MMP7 Proteins)/EGFR (show EGFR Proteins)/ERK (show EPHB2 Proteins) signalling pathway and may act as a new therapeutic target for GC.
This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. Deletions and other mutations in TBL1XR1 can cause autism. The marked differences between Pierpont patients with the p.Tyr446Cys mutation and individuals with other mutations and whole gene deletions indicate a specific, but as yet unknown, disease mechanism of the TBL1XR1 p.Tyr446Cys mutation.
High expressions of TBL1XR1 is associated with liver metastasis for early stage colorectal cancer.
In targeted sequencing, a disruptive mutation of TNFAIP3 (show TNFAIP3 Proteins) was the most common alteration (54%), followed by mutations of TBL1XR1 (18%) and cAMP response element binding proteins (CREBBP (show CREBBP Proteins)) (17%).
TBL1XR1 overexpression may be an unfavorable prognostic factor for Epithelial Ovarian Cancer.
Integrating population variation and protein structural analysis is harnessed to improve clinical interpretation of missense mutations in WD40 domain (show DCAF12L2 Proteins)-containing TBLR1 protein for the prognosis of developmental disabilities.
our data suggest that Setd5 is required for maintaining PGC-associated genes and Setd5-associated protein complexes containing Tbl1xr1 and Ctr9, which in turn are likely involved in regulating germ cell-related genes in mESCs
The cell autonomous transcriptional activity of TBLR1 controls multiple beta-adrenoceptor and postreceptor checkpoints in white adipocytes, thereby coordinating an integrated response of cAMP-dependent free fatty acid (FFA) mobilization.
TBLR1 and TBL1 (show TBL1X Proteins) have roles in specific nuclear receptor-mediated gene activation events
The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation.
transducin (beta)-like 1 X-linked receptor 1
, F-box-like/WD repeat-containing protein TBL1XR1
, f-box-like/WD repeat-containing protein TBL1XR1-like
, transducin (beta)-like 1X-linked receptor 1
, nuclear receptor co-repressor/HDAC3 complex subunit
, TBL1-related protein 1
, nuclear receptor corepressor/HDAC3 complex subunit TBLR1
, transducin beta-like 1X-related protein 1
, F-box-like/WD repeat protein TBL1XR1