TBL1X (NP_005638, 478 a.a. ~ 577 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Alternative Synonym:
CHNG8,EBI,F-box-like/WD repeat-containing protein TBL1X,SMAP55,TBL1,transducin beta like 1X-linked,transducin beta-like protein 1X,transducin-beta-like protein 1, X-linked.
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 been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq
