Antibody type
Monoclonal antibodies
Immunogen
Purified recombinant human TBL1 protein fragments expressed in E.coli.
Specificity
This antibody detects endogenous levels of TBL1X and does not cross-react with related proteins.
Constitute
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
wb 1:1000 icc 1:100
Purification process
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
Other name
EBI;F box like/WD repeat protein TBL1X;F-box-like/WD repeat-containing protein TBL1X; SMAP 55;SMAP55;TBL 1;TBL 1X;TBL1;TBL1X; TBL1X_HUMAN;Transducin (beta) like 1;Transducin (beta) like 1 X linked;Transducin (beta) like 1X linked;Transducin beta like 1 X linked; Transducin beta like 1X;Transducin beta like 1X protein;Transducin beta like protein 1, X linked;Transducin beta-like protein 1X;Transducin-beta-like protein 1;X-linked.
Background
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. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have bee
Function
disease:Defects in TBL1X may be involved in the pathogenesis of ocular albinism with late-onset sensorineural deafness (OASD). OASD is an X-linked disorder characterized by ocular albinism and progressive sensineural hearing loss in the fourth and fifth decades of life. OASD may be caused by deletion of both GPR143/OA1 and TBL1X adjacent genes; TBL1X defects possibly causing the hearing phenotype.,domain:The F-box-like domain is related to the F-box domain, and apparently displays the same function as component of ubiquitin E3 ligase complexes.,function:F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome comple
